Q87.0
BillableCongen malform syndromes predom affecting facial appearance
Congenital malformation syndromes predominantly affecting facial appearance
Status
Billable / Specific
Parent Code
Q87Coding Notes
Inclusion Terms
Alternative clinical terms for this condition
- Acrocephalopolysyndactyly
- Acrocephalosyndactyly [Apert]
- Cryptophthalmos syndrome
- Cyclopia
- Goldenhar syndrome
- Moebius syndrome
- Oro-facial-digital syndrome
- Robin syndrome
- Whistling face
Excludes 2
Conditions not included here, but the patient may have both
- inborn errors of metabolism (E70-E88)
Use Additional Code
Additional codes that should follow this code
- code(s) to identify all associated manifestations
Also Known As / Clinical Terms
SNOMED CT
- BOR syndrome290006
- Branchio-oto-renal syndrome290006
- Melnick-Fraser syndrome290006
- Opocephalus734001
- Mohr syndrome1779005
- OFD II - Orofacial-digital syndrome II1779005
- OFD syndrome type II1779005
- Orofacial-digital syndrome II1779005
- Brachydactyly-spherophakia syndrome2884008
- Brachymorphy with spherophakia syndrome2884008
- Marchesani's syndrome2884008
- Spherophakia-brachymorphia syndrome2884008
- Weill-Marchesani syndrome2884008
- Ruvalcaba syndrome3073006
- Congenital spherophakia4465002
- Spherophakia4465002
- Micrognathia-glossoptosis syndrome4602007
- Pierre Robin association4602007
- Pierre Robin syndrome4602007
- Robin sequence4602007
- Cervical fusion syndrome5601008
- Cervical vertebral fusion5601008
- Cervical vertebral fusion syndrome5601008
- KFS - Klippel-Feil syndrome5601008
- Klippel-Feil deformity5601008
- Klippel-Feil sequence5601008
- Klippel-Feil syndrome5601008
- 10p partial monosomy syndrome6002006
- Hallermann-Streiff syndrome7903009
- Oculomandibulodyscephaly with hypotrichosis syndrome7903009
- Bilateral congenital dislocation of hip10155006
- Brachycephaly13649004
- Short anteroposterior diameter of skull13649004
- Short broad skull13649004
- Wide skull13649004
- Poliosis14240001
- Dandy-Walker deformity14447001
- Dandy-Walker malformation14447001
- Dandy-Walker syndrome14447001
- Microstomia14582003
- First arch syndrome15557005
- CDH - Congenital diaphragmatic hernia17190001
- Congenital diaphragmatic hernia17190001
- Amniocele18735004
- Congenital omphalocele18735004
- Omphalocele18735004
- Ambiguous genitalia21321009
- Asymmetric head21850008
- Lateral curvatures of skull unequal21850008
- Plagiocephaly21850008
- Eyes wide apart22006008
- Eyes widely set22006008
- Hypertelorism22006008
- Orbital hypertelorism22006008
- Orbital separation excessive22006008
- Multiple malformation syndrome with facial-limb defects as major feature23359005
- Townes Brocks syndrome24750000
- Townes syndrome24750000
- Potter facies24814002
- Potter's facies24814002
- Greig cephalopolysyndactyly syndrome32985001
- Hanhart syndrome35031005
- Hanhart's syndrome35031005
- Micrognathia with peromelia35031005
- Congenital small ears35045004
- Microtia35045004
- Nager acrofacial dysostosis syndrome35520007
- Nager syndrome35520007
- Preaxial acrofacial dysostosis35520007
- Cyclops hypognathus37281006
- 4q partial monosomy syndrome37506004
- Chromosome 4q deletion syndrome37506004
- Mietens syndrome40291001
- Multiple malformation syndrome, small stature, without skeletal dysplasia41483000
- Occipital encephalocele42376006
- Oto-palato-digital syndrome, type II42432003
- Otopalatodigital syndrome type 242432003
- Otocephalic syndrome48180002
- Otocephalus48180002
- Otocephaly48180002
- Dysplasia linguofacialis syndrome50913002
- Grob syndrome50913002
- Grob's syndrome50913002
- Craniocarpotarsal dysplasia52616002
- Craniocarpotarsal dystrophy52616002
- Distal arthrogryposis type 2A52616002
- Freeman Burian syndrome52616002
- Freeman-Sheldon syndrome52616002
- Whistling face syndrome52616002
- Oral-facial-digital syndrome52868006
- Orodigitofacial dysostosis52868006
- Orofacial-digital syndrome52868006
- Oto-palato-digital syndrome, type I54036001
- Taybi syndrome54036001
- Congenital hypotrichia56558005
- Congenital hypotrichosis56558005
- Hypotrichosis congenita56558005
- Crowded optic disc57138009
- Pseudopapilledema57138009
- Pseudopapilloedema57138009
- Athetoid movement58593005
- Autosomal recessive cutis laxa type III59252009
- Cutis laxa-corneal clouding-oligophrenia syndrome59252009
- Progeroid syndrome of de Barsey59252009
- de Barsey syndrome59252009
- de Barsey-Moens-Dierckx syndrome59252009
- Cutis laxa, autosomal recessive59451000
- Duane retraction syndrome60318001
- Duane syndrome60318001
- Duane's retraction syndrome60318001
- Duane's syndrome60318001
- Eye retraction syndrome60318001
- Stilling-Turk-Duane syndrome60318001
- Axonal neuropathy60703000
- Arachnodactyly62250003
- Congenital arachnodactyly62250003
- Spider finger62250003
- Multiple malformation syndrome with facial defects as major feature65094009
- Nyctalopia65194006
- Difficulty seeing at night65194006
- Night blindness65194006
- Miller syndrome66038001
- Postaxial acrofacial dysostosis syndrome66038001
- Cortical blindness68574006
- Moyamoya disease69116000
- Congenital cubitus valgus70123009
- Congenital absence of tongue74788000
- Tongue absent74788000
- Multiple malformation syndrome, moderate short stature, facial77701002
- Multiple malformation syndrome, moderate short stature, facial with or without genital features77701002
- Cervico-oculofacial syndrome79665007
- Cervicooculoacoustic syndrome79665007
- Wildervanck syndrome79665007
- Wildervanck's syndrome79665007
- Frontonasal dysplasia sequence86610004
- Median cleft face syndrome86610004
- Exaggeration of the deep reflexes86854008
- Hyperreflexia86854008
- Increased tendon reflexes86854008
- Facial-limb disruptive spectrum89444000
- Hypoglossia-hypodactyly syndrome89444000
- Oromandibular-limb hypogenesis spectrum89444000
- Congenital asymmetry of jaw90693008
- Cleft mandible92822004
- Mandibular cleft92822004
- Congenital hypoplasia of ulna93300007
- Congenital short ulna93300007
- Congenital stenosis of carotid artery93396008
- Bilateral hearing loss95820000
- Abducens nerve finding106156009
- Sixth cranial nerve finding106156009
- Congenital asymmetry of mandible109513007
- Congenital mandibular asymmetry109513007
- Persistent right aortic arch111321007
- Right aortic arch111321007
- Peripheral axonal neuropathy128208007
- Cafe au lait spots201281002
- Cafe-au-lait spots201281002
- Café au lait spot201281002
- Café au lait spots201281002
- Cryptophthalmos syndrome204102004
- Cryptophthalmos, defect of auricle AND genital anomaly204102004
- Fraser syndrome204102004
- Ear, face and neck congenital anomalies204223000
- Dextratransposition of aorta204299009
- Dextrotransposition of aorta204299009
- Cleft nose204521002
- Congenital cleft nose204521002
- Anal atresia204712000
- Aproctia204712000
- Atresia ani204712000
- Congenital atresia of anus204712000
- Congenital imperforate anus204712000
- Imperforate anus204712000
- Congenital absence of the kidney204942005
- Renal agenesis204942005
- Acrocephalosyndactyly (Apert)205258009
- Acrocephalosyndactyly type I205258009
- Apert syndrome205258009
- Acrocephalopolysyndactyly205260006
- Goldenhar syndrome205418005
- Oculoauricular vertebral dysplasia205418005
- Cyclocephaly205798005
- Cyclopia205798005
- Cyclops205798005
- Monophthalmus205798005
- Synophthalmia205798005
- Synophthalmus205798005
- Gorlin-Chaudhry-Moss syndrome205800003
- Oculo-palato-digital syndrome205802006
- Aglossia-adactyly syndrome205817005
- Expressive aphasia229665008
- Expressive dysphasia229665008
- Non-fluent aphasia229665008
- Non-fluent dysphasia229665008
- Slow to talk229721007
- Speech delay229721007
- Congenital disorder of facial nerve230541001
- Congenital facial nerve palsy230542008
- Chronic deafness232325008
- X-linked sensorineural hearing loss232329002
- ICA - Internal carotid artery stenosis233964008
- Internal carotid artery stenosis233964008
- Asymmetry of mandible235082006
- Livedo racemosa238772004
- Livedo reticularis238772004
- OFD III - Orofacial-digital syndrome III239030004
- Oral-facial-digital syndrome type 3239030004
- Orofacial-digital syndrome III239030004
- Orofaciodigital syndrome type 3239030004
- Sugarman syndrome239030004
- Baraitser Burn syndrome239031000
- Mohr Majewski syndrome239031000
- OFD IV - Orofacial-digital syndrome IV239031000
- Oral-facial-digital syndrome type 4239031000
- Orofacial-digital syndrome IV239031000
- Orofaciodigital syndrome type 4239031000
- Hip pathological dislocation239759009
- Telecanthus246803005
- Lanugo247524003
- Marfanoid physique248298009
- Android fat distribution248311001
- Central obesity248311001
- Centripetal obesity248311001
- Fat body with thin limbs248311001
- Obesity of face and trunk, sparing limbs248311001
- Truncal obesity248311001
- Absence of clavicle249678003
- Familial aplasia of the vermis253175003
- Craniofacial microsomia254026007
- Immuno-osseous dysplasia254067002
- Dysplasia with defective mineralisation254117007
- Dysplasia with defective mineralization254117007
- Oculodento-osseous dysplasia254137006
- CMTC - Cutis marmorata telangiectatica congenita254778000
- Congenital livedo reticularis254778000
- Cutis marmorata telangiectasia congenita254778000
- Cutis marmorata telangiectatica congenita254778000
- Van Lohuizen's syndrome254778000
- Congenital macrocornea268158009
- Congenital megalocornea268158009
- Cornea enlarged268158009
- Enlarged cornea268158009
- MGCN - Megalocornea268158009
- Megalocornea268158009
- Acrocephalosyndactyly268262006
- Facio-auriculo-vertebral spectrum367462009
- 6th nerve palsy398760006
- Abducens (sixth) nerve palsy398760006
- Abducens nerve palsy398760006
- Abducens nerve paralysis398760006
- Abducens nerve paresis398760006
- Lateral rectus muscle denervation paresis398760006
- Sixth cranial nerve palsy398760006
- Sixth nerve palsy398760006
- VI nerve palsy398760006
- Congenital sixth nerve palsy400945000
- Developmental malformation of branchial arch402810002
- Lymphedema of leg403385000
- Lymphedema of lower extremity403385000
- Lymphoedema of leg403385000
- Lymphoedema of lower extremity403385000
- Acrocephalopolysyndactyly type 2403767009
- Acrocephalopolysyndactyly type II403767009
- Carpenter syndrome403767009
- Cardio-acral-facial syndrome403769007
- Rabenhorst syndrome403769007
- Cardio-facio-cutaneous syndrome403770008
- Facial milia, lobate tongue, lingual and labial frenula syndrome403773005
- Gorlin-Psaume syndrome403773005
- Congenital anomaly of aortic arch AND/OR descending aorta410065004
- Lentiglobus419281007
- Carey Fineman Ziter syndrome429753001
- Congenital nonprogressive myopathy with Moebius and Robin sequences429753001
- Bowing of upper limb449713008
- Diaphragmatic hernia, abnormal face and distal limb anomalies702432006
- Fryns syndrome702432006
- Auriculo-condylar syndrome702443003
- Auriculocondylar syndrome702443003
- Dysgnathia complex702443003
- Question-mark ear syndrome702443003
- Char syndrome703534001
- Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits703534001
- Hirschsprung disease-intellectual disability syndrome703535000
- Hirschsprung disease-mental retardation syndrome703535000
- Mowat-Wilson syndrome703535000
- First and second branchial arch syndrome703973009
- Craniofrontonasal dysplasia715421009
- Craniofrontonasal syndrome715421009
- Acromelic frontonasal dysplasia715427008
- Toriello syndrome715427008
- McDonough syndrome715441004
- OMM (ophthalmomandibulomelic) syndrome715484003
- Ophthalmomandibulomelic dysplasia715484003
- Pillay syndrome715484003
- Aminopterin syndrome-like sine aminopterin715867000
- Pseudoaminopterin syndrome715867000
- Acrocallosal syndrome715951007
- Binder syndrome715985008
- Maxillonasal dysostosis715985008
- Maxillonasal dysplasia715985008
- Maxillonasal dysplasia syndrome715985008
- Camptodactyly with joint contracture and facial skeletal defect syndrome715986009
- Rozin Hertz Goodman syndrome715986009
- Rozin camptodactyly syndrome715986009
- Congenital heart defect with round face and developmental delay syndrome715987000
- Sonoda syndrome715987000
- Crane Heise syndrome715991005
- Fronto-facio-nasal dysplasia716022002
- Frontofacionasal dysplasia syndrome716022002
- Gollop syndrome716022002
- Cranio-facio-digito-genital syndrome716089008
- Craniofacial digital and genital anomalies syndrome716089008
- Harrod syndrome716089008
- Fryns macrocephaly716108004
- Macrocephaly with spastic paraplegia and dysmorphism syndrome716108004
- Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome716199000
- Mehes syndrome716199000
- Steinfeld syndrome716233007
- Seaver Cassidy syndrome716337006
- MONA (multicentric osteolysis nodulosis arthropathy) spectrum716868003
- Multicentric osteolysis nodulosis arthropathy spectrum716868003
- Joubert syndrome716997004
- Koolen De Vries syndrome717338006
- CODAS (cerebro-oculo-dento-auriculo-skeletal) syndrome717772000
- CODAS syndrome717772000
- Cerebro-oculo-dento-auriculo-skeletal syndrome717772000
- Goldberg Shprintzen megacolon syndrome717822006
- Megacolon microcephaly syndrome717822006
- Blepharonasofacial malformation syndrome717913006
- Pashayan Prozansky syndrome717913006
- Pashayan syndrome717913006
- BNAR (bifid nose, anorectal anomaly, renal anomaly) syndrome717940006
- BNAR syndrome717940006
- Bifid nose, anorectal anomaly, renal anomaly syndrome717940006
- Aase Smith I syndrome718576001
- Aase Smith type 1 syndrome718576001
- Hydrocephalus with cleft palate and joint contracture syndrome718576001
- Oral-facial-digital syndrome Gabrielli type718681002
- Oral-facial-digital syndrome type 11718681002
- Oro-facial digital syndrome type 11718681002
- Orofaciodigital syndrome Gabrielli type718681002
- Orofaciodigital syndrome type 11718681002
- X-linked intellectual disability Seemanova type718897009
- Syndromic X-linked intellectual disability type 11718900002
- X-linked intellectual disability Shashi type718900002
- X-linked intellectual disability Siderius type718908009
- X-linked intellectual disability Stevenson type718909001
- X-linked intellectual disability Stoll type718911005
- Pallister W syndrome719020006
- W syndrome719020006
- X-linked intellectual disability with cubitus valgus and dysmorphism syndrome719138006
- Prieto Badia Mulas syndrome719140001
- X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome719140001
- X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome719155005
- X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome719157002
- X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome719157002
- Cousin syndrome719299009
- Familial pelvis-scapular dysplasia719299009
- Pelviscapular dysplasia719299009
- Pelviscapular dysplasia syndrome719299009
- Hadziselimovic syndrome719395001
- Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type719395001
- Microcephaly faciocardioskeletal syndrome719395001
- Lethal faciocardiomelic dysplasia719400000
- Hyde Forster McCarthy Berry syndrome719812008
- X-linked intellectual disability with plagiocephaly syndrome719812008
- Stoll Kieny Dott syndrome719823007
- Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome719823007
- Wilson Turner syndrome719834005
- Marden Walker like syndrome719845008
- Van den Ende-Gupta syndrome719845008
- Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome719947004
- Temtamy Shalash syndrome719947004
- Temtamy syndrome719947004
- Acro-oto-ocular syndrome720410001
- Acrootoocular syndrome720410001
- Pseudopapilledema, blepharophimosis and hand anomaly syndrome720410001
- Pseudopapilloedema, blepharophimosis and hand anomaly syndrome720410001
- Acro-renal-mandibular syndrome720414005
- Acrorenal mandibular syndrome720414005
- Split hand and split foot with mandibular hypoplasia syndrome720414005
- Acromegaloid facial appearance syndrome720456009
- Arachnodactyly and intellectual disability with facial dysmorphism syndrome720502000
- De Die, Smulders, Vles, Fryns syndrome720502000
- Arthrogryposis multiplex congenita and whistling face syndrome720514008
- Illum syndrome720514008
- Brachytelephalangy, facial dysmorphism, Kallmann syndrome720574003
- Cerebro-facio-thoracic dysplasia720635002
- Pascual Castroviejo syndrome type 1720635002
- Contracture with ectodermal dysplasia and orofacial cleft syndrome720746006
- Ladda Zonana Ramer syndrome720746006
- Craniofacial dyssynostosis syndrome720755009
- Cerebro-oculo-nasal syndrome720855003
- Cerebrooculonasal syndrome720855003
- Filippi syndrome720954000
- Type 1 syndactyly, microcephaly, intellectual disability syndrome720954000
- Brachycephaly, deafness, cataract, intellectual disability syndrome720955004
- Fine Lubinsky syndrome720955004
- Frank-Ter Haar syndrome720958002
- Ter Haar syndrome720958002
- Hall Riggs syndrome721008000
- Deafness and intellectual disability Martin Probst type syndrome721087008
- Martin Probst syndrome721087008
- X-linked deafness and intellectual disability syndrome721087008
- Joubert syndrome with oro-facial-digital syndrome721873007
- Joubert syndrome with orofaciodigital defect721873007
- Orofaciodigital syndrome type 6721873007
- Varadi Papp syndrome721873007
- Varadi syndrome721873007
- Brooks Wisniewski Brown syndrome721875000
- Juberg Marsidi syndrome721875000
- X-linked intellectual developmental disorder Turner type721875000
- X-linked intellectual disability Brooks type721875000
- Hypotelorism, cleft palate, hypospadias syndrome721902002
- Schilbach Rott syndrome721902002
- Irons Bianchi syndrome721978002
- Lymphedema, atrial septal defect, facial changes syndrome721978002
- Lymphoedema, atrial septal defect, facial changes syndrome721978002
- Isotretinoin embryopathy-like syndrome722006004
- Isotretinoin-like syndrome722006004
- Kawashima syndrome722006004
- Microtia aortic arch syndrome722006004
- Kapur Toriello syndrome722031003
- Kaufman oculocerebrofacial syndrome722056009
- Oculocerebrofacial syndrome Kaufman type722056009
- Figuera syndrome722075004
- Oro-facial digital syndrome type 10722075004
- Orofaciodigital syndrome type 10722075004
- Orofaciodigital syndrome with fibular aplasia722075004
- Oro-facial digital syndrome type 5722105002
- Orofaciodigital syndrome Thurston type722105002
- Orofaciodigital syndrome type 5722105002
- Thurston syndrome722105002
- Oral-facial-digital syndrome Edwards type722106001
- Oro-facial digital syndrome type 8722106001
- Orofaciodigital syndrome Edwards type722106001
- Orofaciodigital syndrome type 8722106001
- Severe X-linked intellectual disability Gustavson type722213009
- Perlman syndrome722231005
- Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome722454003
- Mental retardation syndrome Belgian type722454003
- Toriello Carey syndrome722477003
- Congenital atrophy of optic nerve722990003
- Congenital optic atrophy722990003
- Chitayat Meunier Hodgkinson syndrome723461007
- Pierre Robin sequence faciodigital anomaly syndrome723461007
- Pierre Robin sequence with facial and digital anomalies723461007
- Corneal anaesthesia, deafness, intellectual disability syndrome723504000
- Corneal anesthesia, deafness, intellectual disability syndrome723504000
- Ramos Arroyo syndrome723504000
- STAR (syndactyly, telecanthus, anogenital, renal malformation) syndrome723581006
- STAR syndrome723581006
- Syndactyly, telecanthus, anogenital and renal malformation syndrome723581006
- Richieri Costa Pereira syndrome723998001
- Robin sequence with cleft mandible and limb anomalies syndrome723998001
- Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome723998001
- Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome724097003
- Moyamoya disease, short stature, facial dysmorphism, hypergonadotropic hypogonadism724097003
- Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome724174003
- Craniomicromelic syndrome725098001
- Intellectual disability Buenos Aires type725906006
- Mutchinick syndrome725906006
- Pierre Robin sequence, congenital heart defect, talipes syndrome725911008
- Pierre Robin syndrome, congenital heart defect, talipes syndrome725911008
- TARP (talipes equinovarus, atrial septal defect, Robin sequence, persistence of left superior vena cava) syndrome725911008
- TARP syndrome725911008
- Deletion of part of chromosome 4726371001
- Deletion of part of chromosome 5726372008
- Deletion of part of long arm of chromosome 5726373003
- Deletion of part of chromosome 10726380001
- PPT (Pfeiffer Palm Teller) syndrome726672000
- Pfeiffer Palm Teller syndrome726672000
- Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome726672000
- X-linked intellectual disability Nascimento type726732002
- X-linked intellectual disability, nail dystrophy, seizures syndrome726732002
- Cyprus facial neuromusculoskeletal syndrome732261005
- Charlie M syndrome733034007
- Isolated hereditary congenital facial paralysis733091002
- Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome733417008
- SCARF (skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality) syndrome734173003
- SCARF syndrome734173003
- Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome734173003
- Congenital conductive hearing loss737344003
- Dysmorphism, cleft palate, loose skin syndrome763278004
- Facial dysmorphism, cleft palate, loose skin syndrome763278004
- Dysmorphism, conductive hearing loss, heart defect syndrome763279007
- Facial dysmorphism, conductive hearing loss, heart defect syndrome763279007
- Tyshchenko syndrome763279007
- Bone fragility, contractures, arterial rupture, deafness syndrome763318007
- Bone fragillity, contractures, arterial rupture, deafness syndrome763318007
- Connective tissue disorder due to LH3 deficiency763318007
- Connective tissue disorder due to lysyl hydroxylase-3 deficiency763318007
- Cantu craniofaciofrontodigital syndrome763320005
- Craniofaciofrontodigital syndrome763320005
- Autosomal recessive intellectual disability due to TRAPPC9 (trafficking protein particle complex 9) deficiency763350002
- Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome763350002
- Cerebrofacioarticular syndrome763353000
- Van Maldergem syndrome763353000
- Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome763615003
- Velo-facial-skeletal syndrome763616002
- Velofacioskeletal syndrome763616002
- White forelock with malformations763619009
- White forelock with malformations syndrome763619009
- Craniodigital syndrome and intellectual disability syndrome763665007
- Scott Bryant Graham syndrome763665007
- Scott craniodigital syndrome763665007
- Intellectual disability, brachydactyly, Pierre Robin syndrome763744009
- Intellectual disability Wolff type763745005
- Wolff Zimmermann syndrome763745005
- Collins Pope syndrome763755009
- Dislocation of hip and facial dysmorphism syndrome763755009
- Dislocation of hip with dysmorphism syndrome763755009
- Keipert syndrome763774001
- Nasodigitoacoustic syndrome763774001
- Larsen-like syndrome B3GAT3 type763778003
- Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type763778003
- Multiple joint dislocations, short stature, craniofacial dysmorphism, congenital heart defects syndrome763778003
- Oculomaxillofacial dysostosis763830009
- Richieri Costa Gorlin syndrome763830009
- Oro-facial digital syndrome type 1763833006
- Orofaciodigital syndrome type 1763833006
- Papillon Léage Psaume syndrome763833006
- Moran Barroso syndrome763834000
- Oro-facial digital syndrome type 12763834000
- Orofaciodigital syndrome type 12763834000
- Degner syndrome763835004
- Oro-facial digital syndrome type 13763835004
- Orofaciodigital syndrome type 13763835004
- Microcephaly, cerebral malformation, orofaciodigital syndrome763837007
- Oro-facial digital syndrome type 14763837007
- Orofaciodigital syndrome type 14763837007
- Fara Chlupackova syndrome763860004
- Otofaciocervical syndrome763860004
- Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome763866005
- King Denborough syndrome764957003
- Koussef Nichols syndrome764957003
- Microcephaly and chromosomal instability without immunodeficiency766753005
- NBS-like (Nijmegen breakage syndrome-like) disorder766753005
- Nijmegen breakage syndrome-like disorder766753005
- RAD50 deficiency766753005
- Epiphyseal dysplasia, hearing loss, dysmorphism syndrome766870005
- Finucane Kurtz Scott syndrome766870005
- Diencephalic mesencephalic junction dysplasia766871009
- Congenital facial diplegia766987006
- Moebius syndrome766987006
- Congenital dislocation of left hip767002009
- Congenital dislocation of right hip767003004
- Combined immunodeficiency with faciooculoskeletal anomalies syndrome770625006
- Roifman Chitayat syndrome770625006
- Pierre Robin sequence, oligodactyly syndrome770681000
- Robin sequence and oligodactyly syndrome770681000
- FDLAB (facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb) syndrome770728003
- Facial dysmorphism, lens dislocation, anterior segment abnormalities, nontraumatic conjunctive cyst syndrome770728003
- Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome770728003
- Traboulsi syndrome770728003
- Familial omphalocele syndrome with facial dysmorphism770900000
- Kagami Ogata syndrome770907002
- Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect770907002
- Pilotto syndrome771013004
- Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome771074000
- Edinburgh malformation syndrome771178004
- Typus Edinburgensis771178004
- Teebi Shaltout syndrome771265006
- Ogden syndrome771442003
- Premature ageing appearance, developmental delay, cardiac arrhythmia syndrome771442003
- Premature aging appearance, developmental delay, cardiac arrhythmia syndrome771442003
- Jawad syndrome771470001
- FILS (facial dysmorphism, immunodeficiency, livedo, short stature) syndrome771515001
- FILS syndrome771515001
- Facial dysmorphism, immunodeficiency, livedo, short stature syndrome771515001
- Facial dysmorphism, multiple structural anomalies syndrome773281008
- Thakker Donnai syndrome773281008
- Occipital atretic cephalocele, unusual facies, large feet syndrome773307006
- Zechi Ceide syndrome773307006
- Roifman syndrome773404000
- Spondyloepiphyseal dysplasia, retinal dystrophy, immunodeficiency syndrome773404000
- Intellectual disability, facial dysmorphism, hand anomalies syndrome773416006
- Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome773419004
- Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome773419004
- Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome773548008
- Epilepsy, cortical blindness, intellectual disability, facial dysmorphism syndrome773548008
- Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome773551001
- BBIS - Beaulieu Boycott Innes syndrome773554009
- Beaulieu Boycott Innes syndrome773554009
- THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome773554009
- THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome773554009
- Short ulna, dysmorphism, hypotonia, intellectual disability syndrome773556006
- Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome773581009
- Craniofacial dysplasia osteopenia syndrome773622005
- Hamamy syndrome773622005
- SOFT (short stature, onychodysplasia, facial dysmorphism, hypotrichosis) syndrome773625007
- SOFT syndrome773625007
- Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome773625007
- ALX1 (aristaless-like homeobox 1) related frontonasal dysplasia773628009
- ALX1-related frontonasal dysplasia773628009
- Frontonasal dysplasia type 3773628009
- Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome773628009
- Hypogonadotropic hypogonadism, severe microcephaly, sensorineural deafness, dysmorphism syndrome773665006
- Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome773665006
- Blepharophimosis, telecanthus, microstomia syndrome773750003
- Flat face, microstomia, ear anomaly syndrome773750003
- Simosa Penchaszadeh Bustos syndrome773750003
- Simosa craniofacial syndrome773750003
- Emery Nelson syndrome773768000
- Hand and foot deformity, flat facies syndrome773768000
- AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome774068004
- AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome774068004
- AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome774068004
- AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome774068004
- Xia Gibbs syndrome774068004
- FOXP1 syndrome774203000
- FOXP1-related intellectual disability, severe speech delay, mild dysmorphism syndrome774203000
- Intellectual disability, severe speech delay, mild dysmorphism syndrome774203000
- Temple syndrome778012003
- Syndromic multisystem autoimmune disease due to ITCH deficiency778023004
- Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency778023004
- Lethal polymalformative syndrome Boissel type778026007
- Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency782736007
- Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency782736007
- Autosomal recessive spinocerebellar ataxia type 20782753000
- Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome782753000
- SCAR20 - autosomal recessive spinocerebellar ataxia type 20782753000
- OAFNS - oculoauriculofrontonasal syndrome782783009
- Oculoauriculofrontonasal syndrome782783009
- Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome782913006
- Dobrow syndrome782940006
- Syngnathia, multiple anomalies syndrome782940006
- FACES (facial dysmorphism, anorexia, cachexia, eye and skin anomalies) syndrome782949007
- Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome782949007
- Friedman Goodman syndrome782949007
- Sharma Kapoor Ramji syndrome783004003
- Thin ribs, tubular bones, dysmorphism syndrome783004003
- 10p12p11 microdeletion syndrome783061008
- Deletion 10p11.21p12.31783061008
- Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion783061008
- Facial dysmorphism, developmental delay, behavioural abnormalities syndrome due to 10p11.21p12.31 microdeletion783061008
- Monosomy 10p11.21p12.31783061008
- RIDDLE (radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties) syndrome783099001
- RIDDLE syndrome783099001
- RNF168 (ring finger protein 168) deficiency783099001
- Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome783099001
- Cleft palate, Potter sequence, congenital heart anomalies, mesoaxial polydactyly, multiple malformations syndrome783159001
- Holzgreve Wagner Rehder syndrome783159001
- Holzgreve syndrome783159001
- OPD (otopalatodigital) spectrum disorder784010006
- Otopalatodigital syndrome spectrum disorder784010006
- Aneurysm osteoarthritis syndrome785808002
- Developmental delay, facial dysmorphism syndrome due to MED13L deficiency787093004
- Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency787093004
- Bifid nose787413007
- Congenital generalised hypertrichosis838368005
- Congenital generalized hypertrichosis838368005
- Microphthalmos due to Fryns syndrome1003370000
- Congenital corneal dystrophy1003408005
- Congenital dystrophy of cornea1003408005
- Proximal deletion of long arm of chromosome 41003900006
- OAV (oculo-auriculo-vertebral) spectrum1010685005
- Oculo-auriculo-vertebral spectrum1010685005
- Oculoauriculovertebral spectrum1010685005
- Congenital dysplasia of nail unit1142193008
- Congenital hypoplasia of bone of forearm1145430008
- Congenital hypoplasia of bone of radius and/or ulna1145430008
- Aplasia of clavicle1145458000
- Carpenter Waziri syndrome1156584007
- Holmes Gang syndrome1156584007
- Smith Fineman Myers syndrome1156584007
- X-linked intellectual disability hypotonic face syndrome1156584007
- Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome1169355000
- ZTTK syndrome1169355000
- Zhu Tokita Takenouchi Kim syndrome1169355000
- Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome1172594000
- X-linked facial dysmorphism, short stature, choanal atresia, intellectual disability syndrome limited to females1172697000
- X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability1172697000
- Palatal anomalies, multiple diastemata, facial dysmorphism, developmental delay syndrome1172889005
- Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome1172889005
- Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome1177167002
- Skraban Deardorff syndrome1177167002
- Metopic ridging, ptosis, facial dysmorphism syndrome1179283004
- DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A)-related intellectual disability syndrome1179301003
- DYRK1A syndrome1179301003
- DYRK1A-related intellectual disability syndrome1179301003
- Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome1179301003
- CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome1179408008
- Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome1179408008
- Snijders Blok-Campeau syndrome1179408008
- Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome1186729007
- Gabriele-de Vries syndrome1186730002
- YY1 haploinsufficiency syndrome1186730002
- Complex neurodevelopmental disorder1187038009
- Non-specific syndromic intellectual disability1187038009
- Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, deafness syndrome1187039001
- Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome1187039001
- Hyaluronidase 2 deficiency1187039001
- STAG1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome1187041000
- STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome1187041000
- Stromal antigen 1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome1187041000
- Stromal antigen 1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome1187041000
- Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome1187042007
- Mucopolysaccharidosis-like plus disease1187113001
- Mucopolysaccharidosis-like syndrome with congenital heart defect and haematopoietic disorder1187113001
- Mucopolysaccharidosis-like syndrome with congenital heart defect and hematopoietic disorder1187113001
- SIN3A (Switch-insensitive 3 transcription regulator family member A)-related intellectual disability syndrome1187122000
- SIN3A-related intellectual disability syndrome1187122000
- WITKOS - Witteveen Kolk syndrome1187122000
- Witteveen Kolk syndrome1187122000
- WAC-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome1187247007
- WAC-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome1187247007
- WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome1187247007
- WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome1187247007
- Basel Vanagaite Smirin Yosef syndrome1187644009
- Dennis Fairhurst Moore syndrome1197057002
- Hallermann Streiff François syndrome severe form1197057002
- Hallermann Streiff like syndrome1197057002
- Hypoparathyroidism, intellectual disability, dysmorphism syndrome1197148005
- Hypoparathyroidism, short stature, intellectual disability, seizures syndrome1197148005
- Richardson Kirk syndrome1197148005
- SSS - Sanjad Sakati syndrome1197148005
- Sanjad Sakati syndrome1197148005
- Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome1197589000
- Steel syndrome1197589000
- Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome1197591008
- Intellectual disability, expressive aphasia, facial dysmorphism syndrome1197593006
- Intellectual disability, loss of expressive language, facial dysmorphism syndrome1197593006
- Fryns Smeets Thiry syndrome1208344000
- SATB2-associated syndrome1208488006
- Special AT-rich sequence-binding protein 2-associated syndrome1208488006
- 5q23 microdeletion syndrome1216940001
- Joint contractures, developmental delay, Pierre Robin syndrome1216940001
- Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome1217225001
- Generalised lipodystrophy, progeroid features, severe intellectual disability syndrome1220589007
- Generalized lipodystrophy, progeroid features, severe intellectual disability syndrome1220589007
- Keppen Lubinsky syndrome1220589007
- Pierpont syndrome1220594007
- Plantar lipomatosis, facial dysmorphism, developmental delay syndrome1220594007
- TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome1222708006
- Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome1222708006
- PDE4D haploinsufficiency syndrome1236843008
- Phosphodiesterase 4D haploinsufficiency syndrome1236843008
- Hunter Thompson Reed syndrome1237228009
- Night blindness, skeletal anomalies, dysmorphism syndrome1237228009
- X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome1237420004
- PYCR2-related microcephaly, progressive leucoencephalopathy1237421000
- PYCR2-related microcephaly, progressive leukoencephalopathy1237421000
- Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leucoencephalopathy1237421000
- Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy1237421000
- Cerebellar-facial-dental syndrome1237475006
- Cerebellofaciodental syndrome1237475006
- 16p12.1p12.3 triplication syndrome1251450006
- Tetrasomy 16p12.1p12.31251450006
- 4q25 proximal deletion syndrome1251452003
- Proximal monosomy 4q251251452003
- Lamb Shaffer syndrome1251453008
- SOX5 haploinsufficiency syndrome1251453008
- Oculo-cerebro-dental syndrome1255268002
- Oculocerebrodental syndrome1255268002
- Baraitser Winter cerebrofrontofacial syndrome1258972007
- Menke Hennekam syndrome1260095004
- Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome1279889005
- ALDH18A1-related de Barsy syndrome1295485009
- Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome1295485009
- Autosomal recessive cutis laxa type IIIa1295485009
- Delta-1-pyrroline 5-carboxylate synthetase deficiency1295485009
- Neurocutaneous syndrome Bicknell type1295485009
- P5CS deficiency1295485009
- Autosomal recessive cutis laxa type IIIb1295488006
- Disorder due to pyrroline-5-carboxylate reductase 1 deficiency1295488006
- PYCR1-related de Barsy syndrome1295488006
- Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome1295488006
- Clark Baraitser syndrome1300132009
- Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome1303865002
- FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth) syndrome1304114004
- FHEIG syndrome1304114004
- Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth syndrome1304114004
- CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome1332384001
- Cyclin K-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome1332384001
- ACF (asymmetric crying facies) syndrome1345055005
- Asymmetric crying face association1345055005
- Asymmetric crying facies syndrome1345055005
- Asymmetrical crying face syndrome1345055005
- Diets Jongmans syndrome1351843001
- KDM3B-related intellectual disability, facial dysmorphism, short stature syndrome1351843001
- Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome1351843001
- Genetic syndromic childhood obesity1359763002
- Congenital facial asymmetry13851000119109
- Congenital umbilical hernia975231000000107
- Intracranial carotid artery stenosis450440061000119108
- Stenosis of intracranial carotid artery450440061000119108
- Pathological dislocation of bilateral hips15720721000119105
- Pathological dislocation of left hip15720681000119104
- Pathological dislocation of right hip15720761000119100
UMLS
- Sequence, RobinC0031900
- GLOSSOPTOSIS, MICROGNATHIA, AND CLEFT PALATEC0031900
- Glossoptosis, Micrognathia, and Cleft PalateC0031900
- Glossoptosis, micrognathia, and cleft palateC0031900
- Isolated Pierre Robin sequenceC0031900
- Micrognathia-glossoptosis syndromeC0031900
- PIERRE ROBIN SEQUENCEC0031900
- PIERRE ROBIN SYNDROMEC0031900
- PRBNSC0031900
- Pierre Robin SequenceC0031900
- Pierre Robin SyndromeC0031900
- Pierre Robin associationC0031900
- Pierre Robin sequenceC0031900
- Pierre Robin syndromeC0031900
- Pierre Robin's SequenceC0031900
- Pierre Robins SequenceC0031900
- Pierre-Robin SyndromeC0031900
- Pierre-Robin sequenceC0031900
- Pierre-Robin syndromeC0031900
- Pierre-robin anomalyC0031900
- Pierre-robin deformityC0031900
- Pierre-robin malformationC0031900
- Robin SequenceC0031900
- Robin Syndrome, PierreC0031900
- Robin sequenceC0031900
- Robin sequence (disorder)C0031900
- Robin syndromeC0031900
- Robin's anomaladC0031900
- Robin's syndromeC0031900
- Sequence, Pierre RobinC0031900
- Sequence, Pierre Robin'sC0031900
- Syndrome, Pierre RobinC0031900
- Syndrome, Pierre-RobinC0031900
- pierre robin syndromeC0031900
- pierre robin's syndromeC0031900
- pierre robins syndromeC0031900
- pierre-robin syndromeC0031900
- robin sequenceC0031900
- robins sequenceC0031900
- syndrome pierre robinC0031900
- ACROCEPHALOSYNDACTYLY, TYPE IC0001193
- ACS IC0001193
- ACS1C0001193
- APERT SYNDROMEC0001193
- Acrocephalosyndactylies, Type 1C0001193
- Acrocephalosyndactylies, Type IC0001193
- AcrocephalosyndactylyC0001193
- Acrocephalosyndactyly (Apert)C0001193
- Acrocephalosyndactyly [Apert]C0001193
- Acrocephalosyndactyly type IC0001193
- Acrocephalosyndactyly type I (disorder)C0001193
- Acrocephalosyndactyly, Type 1C0001193
- Acrocephalosyndactyly, Type IC0001193
- Apert SyndromeC0001193
- Apert syndromeC0001193
- Apert's syndromeC0001193
- Syndactylic OxycephaliesC0001193
- Syndactylic OxycephalyC0001193
- Syndrome, ApertC0001193
- Type I AcrocephalosyndactyliesC0001193
- Type I AcrocephalosyndactylyC0001193
- Type I acrocephalosyndactylyC0001193
- acrocephalosyndactyliaC0001193
- acrocephalosyndactylyC0001193
- apert syndromeC0001193
- apert's syndromeC0001193
- ARTHROGRYPOSIS, DISTAL, TYPE 2AC0265224
- Arthrogryposis, Distal, Type 2AC0265224
- CRANIOCARPOTARSAL DYSPLASIAC0265224
- CRANIOCARPOTARSAL DYSTROPHYC0265224
- Cranio-Carpo-Tarsal SyndromeC0265224
- Craniocarpotarsal DysplasiaC0265224
- Craniocarpotarsal dysplasiaC0265224
- Craniocarpotarsal dystrophyC0265224
- DA2AC0265224
- Distal Arthrogryposis Type 2AC0265224
- Distal Arthrogryposis, Type 2AC0265224
- Distal arthrogryposis type 2AC0265224
- Distal arthrogryposis, type 2AC0265224
- FBSC0265224
- FREEMAN-SHELDON SYNDROMEC0265224
- FSSC0265224
- Freeman Burian syndromeC0265224
- Freeman Sheldon SyndromeC0265224
- Freeman-Burian syndromeC0265224
- Freeman-Sheldon SyndromeC0265224
- Freeman-Sheldon syndromeC0265224
- Freeman-Sheldon syndrome (disorder)C0265224
- WHISTLING FACE-WINDMILL VANE HAND SYNDROMEC0265224
- Whistling Face SyndromeC0265224
- Whistling Face-Windmill Vane Hand SyndromeC0265224
- Whistling faceC0265224
- Whistling face syndromeC0265224
- Whistling face-windmill vane hand syndromeC0265224
- Whistling-Face SyndromeC0265224
- Windmill-Vane-Hand SyndromeC0265224
- freeman sheldon syndromeC0265224
- freeman-sheldon syndromeC0265224
- whistling face syndromeC0265224
- AcrocephalopolysyndactylyC0687154
- Acrocephalopolysyndactyly (disorder)C0687154
- Asymmetric hypoplasia of facial structuresC0265240
- Auriculobranchiogenic dysplasiaC0265240
- CFMC0265240
- CFM1C0265240
- CRANIOFACIAL MICROSOMIA 1C0265240
- Craniofacial MicrosomiaC0265240
- Craniofacial MicrosomiasC0265240
- Craniofacial microsomiaC0265240
- Craniofacial microsomia (disorder)C0265240
- Dysostosis, OtomandibularC0265240
- Dysplasia, FacioauriculovertebralC0265240
- Dysplasia, Lateral FacialC0265240
- Dysplasia, OculoauriculovertebralC0265240
- Dysplasias, FacioauriculovertebralC0265240
- Dysplasias, Lateral FacialC0265240
- Dysplasias, OculoauriculovertebralC0265240
- FACIOAURICULOVERTEBRAL SEQUENCEC0265240
- FAVC0265240
- FAV SEQUENCEC0265240
- Facial Dysplasia, LateralC0265240
- Facial Dysplasias, LateralC0265240
- Facio-auriculo-vertebral spectrumC0265240
- Facio-auriculo-vertebral spectrum (disorder)C0265240
- Facioauriculovertebral DysplasiaC0265240
- Facioauriculovertebral DysplasiasC0265240
- Facioauriculovertebral SequenceC0265240
- Facioauriculovertebral SequencesC0265240
- Facioauriculovertebral dysplasiaC0265240
- First and Second Branchial Arch SyndromeC0265240
- First and Second Pharyngeal Arch SyndromesC0265240
- First and second branchial arch syndromeC0265240
- First and second branchial arch syndrome (disorder)C0265240
- First and second pharyngeal arch syndromesC0265240
- GOLDENHAR SYNDROMEC0265240
- Goldenhar DiseaseC0265240
- Goldenhar Gorlin SyndromeC0265240
- Goldenhar SyndromeC0265240
- Goldenhar syndromeC0265240
- Goldenhar syndrome (disorder)C0265240
- Goldenhar's syndromeC0265240
- Goldenhar-Gorlin SyndromeC0265240
- Goldenhar-Gorlin SyndromesC0265240
- Goldenhar-Gorlin syndromeC0265240
- HEMIFACIAL MICROSOMIAC0265240
- HFMC0265240
- Lateral Facial DysplasiaC0265240
- Lateral Facial DysplasiasC0265240
- Lateral facial dysplasiaC0265240
- Microsomia, CraniofacialC0265240
- Microsomias, CraniofacialC0265240
- Moeschler Clarren SyndromeC0265240
- OAV (oculo-auriculo-vertebral) spectrumC0265240
- OAV (oculoauriculovertebral) dysplasiaC0265240
- OAV DYSPLASIAC0265240
- OAV complexC0265240
- OAVSC0265240
- OCULOAURICULOVERTEBRAL DYSPLASIAC0265240
- OCULOAURICULOVERTEBRAL SPECTRUMC0265240
- Oculo-auriculo-vertebral spectrumC0265240
- Oculo-auriculo-vertebral spectrum (disorder)C0265240
- Oculoauricular vertebral dysplasiaC0265240
- Oculoauriculovertebral DysplasiaC0265240
- Oculoauriculovertebral DysplasiasC0265240
- Oculoauriculovertebral SpectrumC0265240
- Oculoauriculovertebral SpectrumsC0265240
- Oculoauriculovertebral SyndromeC0265240
- Oculoauriculovertebral dysplasiaC0265240
- Oculoauriculovertebral spectrumC0265240
- Oral Mandibular Auricular SyndromeC0265240
- Oral-Mandibular-Auricular SyndromeC0265240
- Oral-Mandibular-Auricular SyndromesC0265240
- Oral-mandibular-auricular syndromeC0265240
- Otomandibular DysostosisC0265240
- Otomandibular dysostosisC0265240
- Otomandibular dysostosis (disorder)C0265240
- Otomandibular syndromeC0265240
- Unilateral intrauterine facial necrosisC0265240
- Unilateral mandibulofacial dysostosisC0265240
- first arch syndromeC0265240
- goldenhar syndromeC0265240
- goldenhar's syndromeC0265240
- goldenhars syndromeC0265240
- lateral facial dysplasiaC0265240
- oculoauriculovertebral dysplasiaC0265240
- syndrome goldenharC0265240
- CONGEN OCULOFACIAL PARALYSIS MOEBIUSC0221060
- Congenital Oculofacial Paralysis, MoebiusC0221060
- Congenital Ophthalmoplegia and Facial ParesisC0221060
- Congenital facial diplegiaC0221060
- Congenital ophthalmoplegia and facial paresisC0221060
- Facial-limb disruptive spectrumC0221060
- Hypoglossia-hypodactyly syndromeC0221060
- MBSC0221060
- MOBIUS SYNDROMEC0221060
- MOEBIUS CONGEN OCULOFACIAL PARALYSISC0221060
- MOEBIUS SEQUENCEC0221060
- MOEBIUS SYNDROMEC0221060
- Mobius SyndromeC0221060
- Mobius SyndromesC0221060
- Mobius syndromeC0221060
- Moebius Congenital Oculofacial ParalysisC0221060
- Moebius SequenceC0221060
- Moebius SpectrumC0221060
- Moebius SyndromeC0221060
- Moebius SyndromesC0221060
- Moebius congenital oculofacial paralysisC0221060
- Moebius sequenceC0221060
- Moebius spectrumC0221060
- Moebius syndromeC0221060
- Moebius syndrome (disorder)C0221060
- Möbius sequenceC0221060
- Möbius SequenceC0221060
- Möbius SyndromeC0221060
- Oculofacial paralysisC0221060
- Oromandibular-limb hypogenesis spectrumC0221060
- Oromandibular-limb hypogenesis spectrum (disorder)C0221060
- mobius syndromeC0221060
- moebius sequenceC0221060
- moebius syndromeC0221060
- CRYPTOPHTHALMOS WITH OTHER MALFORMATIONSC0265233
- CRYPTOPHTHALMOS-SYNDACTYLY SYNDROMEC0265233
- Cryptophthalmos Syndactyly SyndromeC0265233
- Cryptophthalmos SyndromeC0265233
- Cryptophthalmos syndactyly syndromeC0265233
- Cryptophthalmos syndromeC0265233
- Cryptophthalmos syndrome (disorder)C0265233
- Cryptophthalmos with Other MalformationsC0265233
- Cryptophthalmos with other malformationsC0265233
- Cryptophthalmos, defect of auricle AND genital anomalyC0265233
- Cryptophthalmos-Syndactyly SyndromeC0265233
- Cryptophthalmos-Syndactyly SyndromesC0265233
- FRASER SYNDROMEC0265233
- Fraser SyndromeC0265233
- Fraser syndromeC0265233
- Fraser's syndromeC0265233
- Fraser-Francois syndromeC0265233
- Syndrome, FraserC0265233
- Ullrich-Feichtiger syndromeC0265233
- fraser syndromeC0265233
- fraser's syndromeC0265233
- CYCLOPIAC0266667
- CyclocephalyC0266667
- CyclopiaC0266667
- Cyclopia (disorder)C0266667
- Cyclopia defectC0266667
- CyclopsC0266667
- Cyclops eyeC0266667
- DEMYER SEQUENCEC0266667
- Demyer SequenceC0266667
- HOLOPROSENCEPHALY 1C0266667
- HPE1C0266667
- Holoprosencephaly 1C0266667
- Holoprosencephaly Type 1C0266667
- MonophthalmusC0266667
- Single central eyeC0266667
- SynophthalmiaC0266667
- SynophthalmusC0266667
- cyclocephalyC0266667
- cyclopC0266667
- cyclopiaC0266667
- cyclopia sequenceC0266667
- cyclopian defectC0266667
- cyclopsC0266667
- synophthalmiaC0266667
- Congen malform syndromes predom affecting facial appearanceC0432066
- Congenital malformation syndromes predominantly affecting facial appearanceC0432066
- Dysplasia LinguofacialisC0029294
- Dysplasia linguofacialisC0029294
- OFDSC0029294
- Oral-Facial-Digital SyndromeC0029294
- Oral-facial-digital syndromeC0029294
- Oral-facial-digital syndrome (disorder)C0029294
- Oro-Facio-Digital SyndromeC0029294
- Oro-facial-digital syndromeC0029294
- Oro-facio-digital syndromeC0029294
- Orodigitofacial DysostosisC0029294
- Orodigitofacial SyndromeC0029294
- Orodigitofacial dysostosisC0029294
- Orodigitofacial syndromeC0029294
- Orofacial-digital syndromeC0029294
- Orofaciodigital SyndromeC0029294
- Orofaciodigital SyndromesC0029294
- Orofaciodigital syndromeC0029294
- Syndrome, OrofaciodigitalC0029294
- Syndromes, OrofaciodigitalC0029294
- oral facial digital syndromeC0029294
- oral-facial-digital syndromeC0029294
- orofacial digital syndromeC0029294
- orofacial-digital syndromeC0029294
- orofaciodigital syndromeC0029294
Frequently Asked Questions
What is the ICD-10 code for congen malform syndromes predom affecting facial appearance?
The ICD-10-CM code for congen malform syndromes predom affecting facial appearance is Q87.0. The full clinical description is "Congenital malformation syndromes predominantly affecting facial appearance". Q87.0 is a billable/specific code that can be used on insurance claims and medical billing.
What does ICD-10 code Q87.0 mean?
ICD-10-CM code Q87.0 represents "Congenital malformation syndromes predominantly affecting facial appearance". It is classified under Chapter 17: Congenital Malformations, Deformations and Chromosomal Abnormalities and is a billable/specific code that can be used on a claim.
Is Q87.0 a billable code?
Yes, Q87.0 is a billable/specific ICD-10-CM code and can be used to indicate a diagnosis on a medical claim.
What chapter is Q87.0 in?
Q87.0 is in Chapter 17: Congenital Malformations, Deformations and Chromosomal Abnormalities (codes Q00-Q99).
Are additional codes required with Q87.0?
Yes, when using Q87.0 you should also code: code(s) to identify all associated manifestations.
What SNOMED CT codes does Q87.0 map to?
Q87.0 maps to 361 SNOMED CT concepts: 65194006, 229721007, 6002006, 783061008, 1251450006, and 356 more. SNOMED CT is a clinical terminology used in electronic health records.
What are the UMLS CUIs for Q87.0?
Q87.0 is linked to 10 UMLS Concept Unique Identifiers: C0031900, C0001193, C0265224, C0687154, C0265240, and 5 more. The UMLS (Unified Medical Language System) integrates multiple biomedical vocabularies maintained by the U.S. National Library of Medicine.
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Includes SNOMED Clinical Terms® (SNOMED CT®) used by permission of SNOMED International. Includes content from the UMLS Metathesaurus, courtesy of the U.S. National Library of Medicine.