AutoICD API

Q87.0

Billable

Congen malform syndromes predom affecting facial appearance

Congenital malformation syndromes predominantly affecting facial appearance

Status

Billable / Specific

Parent Code

Q87

ICD-11 Mapping

1 equivalent

Coding 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

Use Additional Code

Additional codes that should follow this code

  • code(s) to identify all associated manifestations
Related Codes(6)
Q87.1

Congenital malform syndromes predom assoc w short stature

Q87.2

Congenital malformation syndromes predom involving limbs

BillableQ87.3

Congenital malformation syndromes involving early overgrowth

BillableQ87.4

Marfan syndrome

Q87.5

Oth congenital malformation syndromes w oth skeletal changes

BillableQ87.8

Oth congenital malformation syndromes, NEC

ICD-11 Equivalents(1)

ICD-11 Equivalents

View full mapping

Corresponding ICD-11 codes from the WHO crosswalk mapping

LD2ZMultiple developmental anomalies or syndromes, unspecifiedequivalentPrimary
Also Known As / Clinical Terms(2033)

SNOMED CT

UMLS

Clinical Terms

  • Congenital sixth nerve palsy
  • Mental retardation syndrome Belgian type
  • Craniofacial microsomia
  • PYCR2-related microcephaly, progressive leucoencephalopathy
  • Richieri Costa Gorlin syndrome
  • FAV SEQUENCE
  • Congenital conductive hearing loss
  • Traboulsi syndrome
  • Postaxial acrofacial dysostosis syndrome
  • Edinburgh malformation syndrome
  • Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth syndrome
  • Joubert syndrome
  • Pseudopapilloedema
  • Oromandibular-limb hypogenesis spectrum (disorder)
  • Pierre-Robin syndrome
  • DEMYER SEQUENCE
  • Peripheral axonal neuropathy
  • Moebius Sequence
  • X-linked intellectual disability Seemanova type
  • P5CS deficiency
  • MOEBIUS SYNDROME
  • Dysmorphism, cleft palate, loose skin syndrome
  • Maxillonasal dysostosis
  • Freeman-Sheldon Syndrome
  • Orofaciodigital syndrome type 6
  • Otomandibular dysostosis (disorder)
  • Micrognathia with peromelia
  • Freeman-Sheldon syndrome (disorder)
  • Pierre-robin anomaly
  • CMTC - Cutis marmorata telangiectatica congenita
  • Wilson Turner syndrome
  • Cutis marmorata telangiectasia congenita
  • Grob's syndrome
  • Cervico-oculofacial syndrome
  • Temtamy Shalash syndrome
  • Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
  • Dysplasias, Facioauriculovertebral
  • Amniocele
  • Congenital dislocation of left hip
  • Keppen Lubinsky syndrome
  • Dysostosis, Otomandibular
  • First and Second Pharyngeal Arch Syndromes
  • BBIS - Beaulieu Boycott Innes syndrome
  • Oro-facial-digital syndrome
  • Aproctia
  • synophthalmia
  • FDLAB (facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb) syndrome
  • Snijders Blok-Campeau syndrome
  • Chromosome 4q deletion syndrome
  • Weill-Marchesani syndrome
  • FOXP1-related intellectual disability, severe speech delay, mild dysmorphism syndrome
  • Cryptophthalmos Syndrome
  • X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome
  • ACS I
  • Cerebro-oculo-dento-auriculo-skeletal syndrome
  • Kagami Ogata syndrome
  • Dysplasia linguofacialis
  • 10p12p11 microdeletion syndrome
  • Congenital absence of tongue
  • Corneal anesthesia, deafness, intellectual disability syndrome
  • Congenital Oculofacial Paralysis, Moebius
  • Syndrome, Fraser
  • Oro-facial digital syndrome type 5
  • Melnick-Fraser syndrome
  • Pierre-robin malformation
  • orofaciodigital syndrome
  • Combined immunodeficiency with faciooculoskeletal anomalies syndrome
  • Expressive dysphasia
  • Lamb Shaffer syndrome
  • robin sequence
  • Congenital dysplasia of nail unit
  • Oro-facio-digital syndrome
  • Brachydactyly-spherophakia syndrome
  • OFD syndrome type II
  • Spider finger
  • Mohr Majewski syndrome
  • Nager acrofacial dysostosis syndrome
  • Isotretinoin embryopathy-like syndrome
  • Congenital hypotrichosis
  • AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome
  • Goldberg Shprintzen megacolon syndrome
  • Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome
  • Livedo reticularis
  • Occipital encephalocele
  • Omphalocele
  • Generalised lipodystrophy, progeroid features, severe intellectual disability syndrome
  • Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome
  • Auriculobranchiogenic dysplasia
  • Pierre Robins Sequence
  • Dysplasias, Oculoauriculovertebral
  • Distal Arthrogryposis Type 2A
  • Whistling Face-Windmill Vane Hand Syndrome
  • Syndromes, Orofaciodigital
  • Oro-facial digital syndrome type 14
  • First and second branchial arch syndrome (disorder)
  • Short anteroposterior diameter of skull
  • Acrocephalopolysyndactyly type 2
  • Velofacioskeletal syndrome
  • Oculomaxillofacial dysostosis
  • DA2A
  • Goldenhar-Gorlin Syndromes
  • Robin sequence (disorder)
  • Deafness and intellectual disability Martin Probst type syndrome
  • Sharma Kapoor Ramji syndrome
  • STAR syndrome
  • Oculoauriculovertebral dysplasia
  • Scott Bryant Graham syndrome
  • Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
  • Craniofrontonasal syndrome
  • Increased tendon reflexes
  • Oral-facial-digital syndrome type 3
  • W syndrome
  • Dysplasia with defective mineralisation
  • Congenital arachnodactyly
  • WAC-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome
  • Facioauriculovertebral Dysplasia
  • Oral-facial-digital syndrome (disorder)
  • Facio-auriculo-vertebral spectrum (disorder)
  • Robin's anomalad
  • Asymmetric hypoplasia of facial structures
  • Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome
  • Charlie M syndrome
  • Hypogonadotropic hypogonadism, severe microcephaly, sensorineural deafness, dysmorphism syndrome
  • acrocephalosyndactylia
  • oral-facial-digital syndrome
  • Baraitser Winter cerebrofrontofacial syndrome
  • Congenital nonprogressive myopathy with Moebius and Robin sequences
  • Pseudopapilledema
  • X-linked intellectual disability with plagiocephaly syndrome
  • Tongue absent
  • ACROCEPHALOSYNDACTYLY, TYPE I
  • Congenital facial diplegia
  • Congenital corneal dystrophy
  • Abducens nerve paralysis
  • Otocephalic syndrome
  • Zhu Tokita Takenouchi Kim syndrome
  • Bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome
  • Hallermann Streiff like syndrome
  • Acrocephalopolysyndactyly type II
  • Carpenter Waziri syndrome
  • Cryptophthalmos with other malformations
  • Monosomy 10p11.21p12.31
  • Oculoauriculovertebral Syndrome
  • Orofaciodigital syndrome Thurston type
  • Acromelic frontonasal dysplasia
  • Microcephaly, cerebral malformation, orofaciodigital syndrome
  • MONA (multicentric osteolysis nodulosis arthropathy) spectrum
  • Moebius Spectrum
  • Mutchinick syndrome
  • Type I Acrocephalosyndactyly
  • X-linked intellectual disability Stoll type
  • Pillay syndrome
  • Ramos Arroyo syndrome
  • Wildervanck syndrome
  • Goldenhar-Gorlin Syndrome
  • ALX1 (aristaless-like homeobox 1) related frontonasal dysplasia
  • Cryptophthalmos Syndactyly Syndrome
  • Multicentric osteolysis nodulosis arthropathy spectrum
  • Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
  • Distal arthrogryposis, type 2A
  • Congenital asymmetry of jaw
  • Hunter Thompson Reed syndrome
  • Multiple malformation syndrome with facial defects as major feature
  • Hirschsprung disease-mental retardation syndrome
  • Corneal anaesthesia, deafness, intellectual disability syndrome
  • Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
  • cyclopian defect
  • Bone fragillity, contractures, arterial rupture, deafness syndrome
  • PDE4D haploinsufficiency syndrome
  • OFD III - Orofacial-digital syndrome III
  • Robin Syndrome, Pierre
  • Dandy-Walker deformity
  • Varadi Papp syndrome
  • X-linked intellectual developmental disorder Turner type
  • Mobius Syndromes
  • goldenhars syndrome
  • WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome
  • Congenital umbilical hernia
  • SATB2-associated syndrome
  • Pierre Robin's Sequence
  • Robin syndrome
  • Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome
  • Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome
  • Thin ribs, tubular bones, dysmorphism syndrome
  • CRANIOCARPOTARSAL DYSPLASIA
  • Immuno-osseous dysplasia
  • Aplasia of clavicle
  • Cutis laxa-corneal clouding-oligophrenia syndrome
  • Deletion of part of chromosome 5
  • Cantu craniofaciofrontodigital syndrome
  • Lateral rectus muscle denervation paresis
  • Perlman syndrome
  • Deletion 10p11.21p12.31
  • Rabenhorst syndrome
  • Fraser-Francois syndrome
  • Goldenhar's syndrome
  • Oculocerebrofacial syndrome Kaufman type
  • Simosa craniofacial syndrome
  • Cleft palate, Potter sequence, congenital heart anomalies, mesoaxial polydactyly, multiple malformations syndrome
  • Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome
  • Thakker Donnai syndrome
  • Congenital heart defect with round face and developmental delay syndrome
  • Cyclopia defect
  • Fryns Smeets Thiry syndrome
  • Teebi Shaltout syndrome
  • Megacolon microcephaly syndrome
  • Brachytelephalangy, facial dysmorphism, Kallmann syndrome
  • HOLOPROSENCEPHALY 1
  • Otofaciocervical syndrome
  • Acrocephalosyndactyly, Type 1
  • cyclops
  • Moebius Syndromes
  • ACF (asymmetric crying facies) syndrome
  • DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A)-related intellectual disability syndrome
  • Duane's retraction syndrome
  • Degner syndrome
  • Grob syndrome
  • Orofacial-digital syndrome II
  • Renal agenesis
  • Orofaciodigital syndrome type 8
  • Craniocarpotarsal dystrophy
  • Cardio-facio-cutaneous syndrome
  • TARP (talipes equinovarus, atrial septal defect, Robin sequence, persistence of left superior vena cava) syndrome
  • Craniofacial digital and genital anomalies syndrome
  • Thurston syndrome
  • Facio-auriculo-vertebral spectrum
  • Android fat distribution
  • Fat body with thin limbs
  • Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome
  • Blepharonasofacial malformation syndrome
  • Syngnathia, multiple anomalies syndrome
  • Syndrome, Pierre-Robin
  • Lateral Facial Dysplasia
  • Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome
  • Simosa Penchaszadeh Bustos syndrome
  • X-linked intellectual disability with cubitus valgus and dysmorphism syndrome
  • Nager syndrome
  • Larsen-like syndrome B3GAT3 type
  • Otomandibular Dysostosis
  • Proximal deletion of long arm of chromosome 4
  • Congenital small ears
  • Cortical blindness
  • FILS syndrome
  • Congenital anomaly of aortic arch AND/OR descending aorta
  • Cervicooculoacoustic syndrome
  • Oculofacial paralysis
  • Blepharophimosis, telecanthus, microstomia syndrome
  • Roifman syndrome
  • KDM3B-related intellectual disability, facial dysmorphism, short stature syndrome
  • Hanhart syndrome
  • Lymphoedema of leg
  • GOLDENHAR SYNDROME
  • Lateral curvatures of skull unequal
  • Cleft mandible
  • Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
  • pierre robin syndrome
  • Fryns macrocephaly
  • ICA - Internal carotid artery stenosis
  • Opocephalus
  • Syndromic multisystem autoimmune disease due to ITCH deficiency
  • Kaufman oculocerebrofacial syndrome
  • cyclopia sequence
  • Axonal neuropathy
  • Hydrocephalus with cleft palate and joint contracture syndrome
  • FILS (facial dysmorphism, immunodeficiency, livedo, short stature) syndrome
  • Cranio-Carpo-Tarsal Syndrome
  • Aminopterin syndrome-like sine aminopterin
  • Frontofacionasal dysplasia syndrome
  • Brachycephaly, deafness, cataract, intellectual disability syndrome
  • Complex neurodevelopmental disorder
  • McDonough syndrome
  • FHEIG syndrome
  • Fraser syndrome
  • Orofaciodigital syndrome type 1
  • Holoprosencephaly Type 1
  • Temple syndrome
  • Facial Dysplasias, Lateral
  • Robin's syndrome
  • Orbital separation excessive
  • Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome
  • Arachnodactyly
  • Delta-1-pyrroline 5-carboxylate synthetase deficiency
  • Mohr syndrome
  • Syndactyly, telecanthus, anogenital and renal malformation syndrome
  • Orofacial-digital syndrome IV
  • Autosomal recessive cutis laxa type III
  • Facioauriculovertebral Dysplasias
  • Syndrome, Pierre Robin
  • X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome
  • Potter's facies
  • Cervical vertebral fusion syndrome
  • cyclocephaly
  • Otopalatodigital syndrome type 2
  • Gabriele-de Vries syndrome
  • Seaver Cassidy syndrome
  • Oculoauriculovertebral Spectrums
  • Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
  • Acrocephalopolysyndactyly
  • Duane's syndrome
  • RAD50 deficiency
  • RNF168 (ring finger protein 168) deficiency
  • PYCR1-related de Barsy syndrome
  • Gollop syndrome
  • Craniofacial dyssynostosis syndrome
  • Tetrasomy 16p12.1p12.3
  • Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
  • Phosphodiesterase 4D haploinsufficiency syndrome
  • Cervical fusion syndrome
  • SIN3A (Switch-insensitive 3 transcription regulator family member A)-related intellectual disability syndrome
  • 10p partial monosomy syndrome
  • Fraser's syndrome
  • Cyprus facial neuromusculoskeletal syndrome
  • Multiple malformation syndrome, moderate short stature, facial with or without genital features
  • Pashayan syndrome
  • Toriello syndrome
  • X-linked intellectual disability Shashi type
  • Carey Fineman Ziter syndrome
  • 4q25 proximal deletion syndrome
  • Dysplasia with defective mineralization
  • Neurocutaneous syndrome Bicknell type
  • STAR (syndactyly, telecanthus, anogenital, renal malformation) syndrome
  • Goldenhar syndrome (disorder)
  • Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
  • OAV DYSPLASIA
  • Orodigitofacial syndrome
  • Whistling Face Syndrome
  • Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome
  • Aglossia-adactyly syndrome
  • Otopalatodigital syndrome spectrum disorder
  • PIERRE ROBIN SEQUENCE
  • Greig cephalopolysyndactyly syndrome
  • OAFNS - oculoauriculofrontonasal syndrome
  • Facial dysmorphism, multiple structural anomalies syndrome
  • Cyclopia
  • Keipert syndrome
  • SIN3A-related intellectual disability syndrome
  • Congenital ophthalmoplegia and facial paresis
  • Craniofacial Microsomias
  • Cutis marmorata telangiectatica congenita
  • Friedman Goodman syndrome
  • 6th nerve palsy
  • Craniofacial dysplasia osteopenia syndrome
  • Hyaluronidase 2 deficiency
  • Dislocation of hip with dysmorphism syndrome
  • Sixth nerve palsy
  • WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome
  • Goldenhar Disease
  • Stenosis of intracranial carotid artery
  • Orofaciodigital syndrome type 11
  • Pierre-robin deformity
  • Flat face, microstomia, ear anomaly syndrome
  • Craniomicromelic syndrome
  • Congenital generalized hypertrichosis
  • Gorlin-Psaume syndrome
  • Craniodigital syndrome and intellectual disability syndrome
  • Rozin Hertz Goodman syndrome
  • Möbius Syndrome
  • Unilateral mandibulofacial dysostosis
  • Congenital atresia of anus
  • Question-mark ear syndrome
  • Dobrow syndrome
  • Oral-Mandibular-Auricular Syndromes
  • Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome
  • CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME
  • Robin sequence with cleft mandible and limb anomalies syndrome
  • FACES (facial dysmorphism, anorexia, cachexia, eye and skin anomalies) syndrome
  • orofacial-digital syndrome
  • Cerebrofacioarticular syndrome
  • robins sequence
  • de Barsey syndrome
  • Pierre Robin sequence, oligodactyly syndrome
  • Wide skull
  • Pseudopapilledema, blepharophimosis and hand anomaly syndrome
  • Ruvalcaba syndrome
  • Split hand and split foot with mandibular hypoplasia syndrome
  • Freeman Sheldon Syndrome
  • Intellectual disability, severe speech delay, mild dysmorphism syndrome
  • Intracranial carotid artery stenosis
  • X-linked facial dysmorphism, short stature, choanal atresia, intellectual disability syndrome limited to females
  • apert's syndrome
  • Whistling-Face Syndrome
  • Cyclin K-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome
  • Oculo-cerebro-dental syndrome
  • Dennis Fairhurst Moore syndrome
  • Night blindness, skeletal anomalies, dysmorphism syndrome
  • Persistent right aortic arch
  • Telecanthus
  • Congenital hypotrichia
  • Cerebellofaciodental syndrome
  • Frontonasal dysplasia type 3
  • CODAS syndrome
  • First arch syndrome
  • Abducens nerve palsy
  • Hypertelorism
  • Freeman-Burian syndrome
  • Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome
  • Microstomia
  • SCAR20 - autosomal recessive spinocerebellar ataxia type 20
  • Dandy-Walker malformation
  • Filippi syndrome
  • Steel syndrome
  • Dysplasias, Lateral Facial
  • Centripetal obesity
  • Pseudoaminopterin syndrome
  • THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome
  • Cerebro-oculo-nasal syndrome
  • 5q23 microdeletion syndrome
  • Irons Bianchi syndrome
  • Acrootoocular syndrome
  • Proximal monosomy 4q25
  • Facial dysmorphism, conductive hearing loss, heart defect syndrome
  • Ullrich-Feichtiger syndrome
  • Auriculocondylar syndrome
  • Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
  • Acrocephalosyndactyly type I
  • Branchio-oto-renal syndrome
  • Marden Walker like syndrome
  • Sixth cranial nerve palsy
  • Facioauriculovertebral Sequence
  • BNAR (bifid nose, anorectal anomaly, renal anomaly) syndrome
  • MOBIUS SYNDROME
  • Lymphedema of lower extremity
  • Diaphragmatic hernia, abnormal face and distal limb anomalies
  • Apert syndrome
  • Dislocation of hip and facial dysmorphism syndrome
  • Collins Pope syndrome
  • Wolff Zimmermann syndrome
  • Unilateral intrauterine facial necrosis
  • Autosomal recessive cutis laxa type IIIa
  • Intellectual disability, expressive aphasia, facial dysmorphism syndrome
  • FBS
  • Pierre Robin syndrome, congenital heart defect, talipes syndrome
  • Frontonasal dysplasia sequence
  • Congenital imperforate anus
  • Stoll Kieny Dott syndrome
  • Koussef Nichols syndrome
  • Congenital asymmetry of mandible
  • Acrocephalosyndactylies, Type I
  • BOR syndrome
  • syndrome goldenhar
  • First and second branchial arch syndrome
  • Hall Riggs syndrome
  • Acrocephalosyndactyly (Apert)
  • Diets Jongmans syndrome
  • Acrocephalosyndactyly type I (disorder)
  • White forelock with malformations
  • HFM
  • pierre robins syndrome
  • Cerebrooculonasal syndrome
  • Congenital hypoplasia of ulna
  • Aase Smith I syndrome
  • YY1 haploinsufficiency syndrome
  • Congenital generalised hypertrichosis
  • Miller syndrome
  • Brooks Wisniewski Brown syndrome
  • Cerebro-facio-thoracic dysplasia
  • Townes Brocks syndrome
  • Facioauriculovertebral Sequences
  • Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
  • Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
  • PRBNS
  • Exaggeration of the deep reflexes
  • X-linked sensorineural hearing loss
  • Bifid nose, anorectal anomaly, renal anomaly syndrome
  • Dysplasia linguofacialis syndrome
  • Dysmorphism, conductive hearing loss, heart defect syndrome
  • Syndactylic Oxycephalies
  • Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome
  • SOFT syndrome
  • Hyde Forster McCarthy Berry syndrome
  • Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
  • Facial-limb disruptive spectrum
  • Mehes syndrome
  • Dandy-Walker syndrome
  • X-linked intellectual disability hypotonic face syndrome
  • Cyclops hypognathus
  • Moebius syndrome (disorder)
  • Sequence, Pierre Robin's
  • Absence of clavicle
  • KFS - Klippel-Feil syndrome
  • Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome
  • Sugarman syndrome
  • AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome
  • Mowat-Wilson syndrome
  • Slow to talk
  • Congenital stenosis of carotid artery
  • Cranio-facio-digito-genital syndrome
  • Oral-facial-digital syndrome Gabrielli type
  • Hypoparathyroidism, short stature, intellectual disability, seizures syndrome
  • MOEBIUS CONGEN OCULOFACIAL PARALYSIS
  • Holzgreve syndrome
  • Sonoda syndrome
  • X-linked deafness and intellectual disability syndrome
  • ACS1
  • Ear, face and neck congenital anomalies
  • Joint contractures, developmental delay, Pierre Robin syndrome
  • Craniofacial microsomia (disorder)
  • Congenital facial asymmetry
  • Stromal antigen 1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome
  • Isolated hereditary congenital facial paralysis
  • CODAS (cerebro-oculo-dento-auriculo-skeletal) syndrome
  • Mucopolysaccharidosis-like syndrome with congenital heart defect and haematopoietic disorder
  • Sequence, Pierre Robin
  • Toriello Carey syndrome
  • Finucane Kurtz Scott syndrome
  • Marfanoid physique
  • PYCR2-related microcephaly, progressive leukoencephalopathy
  • Duane retraction syndrome
  • Autosomal recessive intellectual disability due to TRAPPC9 (trafficking protein particle complex 9) deficiency
  • Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
  • Facial dysmorphism, cleft palate, loose skin syndrome
  • Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome
  • Holzgreve Wagner Rehder syndrome
  • Brachycephaly
  • X-linked intellectual disability Stevenson type
  • Atresia ani
  • Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leucoencephalopathy
  • Lateral Facial Dysplasias
  • Median cleft face syndrome
  • SOFT (short stature, onychodysplasia, facial dysmorphism, hypotrichosis) syndrome
  • Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome
  • Dysgnathia complex
  • Oculo-auriculo-vertebral spectrum
  • FAV
  • Lymphoedema of lower extremity
  • Multiple malformation syndrome, small stature, without skeletal dysplasia
  • MGCN - Megalocornea
  • Orofaciodigital syndrome type 10
  • Van Lohuizen's syndrome
  • Progeroid syndrome of de Barsey
  • Premature ageing appearance, developmental delay, cardiac arrhythmia syndrome
  • Van Maldergem syndrome
  • Bone fragility, contractures, arterial rupture, deafness syndrome
  • CFM1
  • X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome
  • Clark Baraitser syndrome
  • cyclop
  • OCULOAURICULOVERTEBRAL SPECTRUM
  • ZTTK syndrome
  • Developmental malformation of branchial arch
  • Multiple malformation syndrome with facial-limb defects as major feature
  • syndrome pierre robin
  • Multiple joint dislocations, short stature, craniofacial dysmorphism, congenital heart defects syndrome
  • Congenital hypoplasia of bone of radius and/or ulna
  • Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
  • Contracture with ectodermal dysplasia and orofacial cleft syndrome
  • Cafe au lait spots
  • Eyes wide apart
  • Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome
  • Obesity of face and trunk, sparing limbs
  • Acrocephalosyndactylies, Type 1
  • Nijmegen breakage syndrome-like disorder
  • MBS
  • Cryptophthalmos-Syndactyly Syndromes
  • Cyclopia (disorder)
  • Café au lait spot
  • TARP syndrome
  • Lethal polymalformative syndrome Boissel type
  • Pathological dislocation of left hip
  • Moeschler Clarren Syndrome
  • Holmes Gang syndrome
  • Syndrome, Orofaciodigital
  • Connective tissue disorder due to LH3 deficiency
  • Oculo-auriculo-vertebral spectrum (disorder)
  • Hypotrichosis congenita
  • Asymmetric crying facies syndrome
  • Non-specific syndromic intellectual disability
  • Pelviscapular dysplasia
  • 4q partial monosomy syndrome
  • Difficulty seeing at night
  • Congenital cubitus valgus
  • Townes syndrome
  • Pierpont syndrome
  • Robin sequence and oligodactyly syndrome
  • Duane syndrome
  • White forelock with malformations syndrome
  • Type 1 syndactyly, microcephaly, intellectual disability syndrome
  • Pseudopapilloedema, blepharophimosis and hand anomaly syndrome
  • Hyperreflexia
  • Asymmetrical crying face syndrome
  • Beaulieu Boycott Innes syndrome
  • Baraitser Burn syndrome
  • RIDDLE syndrome
  • Pierre Robin sequence with facial and digital anomalies
  • 16p12.1p12.3 triplication syndrome
  • Lentiglobus
  • Short broad skull
  • Microtia
  • Disorder due to pyrroline-5-carboxylate reductase 1 deficiency
  • Palatal anomalies, multiple diastemata, facial dysmorphism, developmental delay syndrome
  • Orbital hypertelorism
  • Möbius Sequence
  • Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, deafness syndrome
  • X-linked intellectual disability Nascimento type
  • Oculoauriculovertebral Dysplasias
  • Sixth cranial nerve finding
  • Cornea enlarged
  • Oto-palato-digital syndrome, type I
  • Congenital facial nerve palsy
  • Acro-renal-mandibular syndrome
  • STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome
  • Oculoauriculofrontonasal syndrome
  • Arthrogryposis, Distal, Type 2A
  • AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
  • Smith Fineman Myers syndrome
  • Martin Probst syndrome
  • Ambiguous genitalia
  • X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
  • Whistling face
  • Abducens (sixth) nerve palsy
  • Klippel-Feil deformity
  • Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
  • Acrorenal mandibular syndrome
  • Congenital disorder of facial nerve
  • Dysplasia, Oculoauriculovertebral
  • Orofaciodigital Syndromes
  • Glossoptosis, Micrognathia, and Cleft Palate
  • Congenital cleft nose
  • Severe X-linked intellectual disability Gustavson type
  • Epilepsy, cortical blindness, intellectual disability, facial dysmorphism syndrome
  • Orofaciodigital syndrome type 13
  • Facial milia, lobate tongue, lingual and labial frenula syndrome
  • Mandibular cleft
  • Occipital atretic cephalocele, unusual facies, large feet syndrome
  • Syndromic X-linked intellectual disability type 11
  • Kawashima syndrome
  • Acrocallosal syndrome
  • Athetoid movement
  • Hip pathological dislocation
  • Bowing of upper limb
  • SCARF (skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality) syndrome
  • Lymphedema, atrial septal defect, facial changes syndrome
  • Spherophakia
  • Moyamoya disease
  • Oculomandibulodyscephaly with hypotrichosis syndrome
  • Emery Nelson syndrome
  • Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome
  • Autosomal recessive cutis laxa type IIIb
  • Chitayat Meunier Hodgkinson syndrome
  • Fine Lubinsky syndrome
  • Sanjad Sakati syndrome
  • Café au lait spots
  • Oculoauricular vertebral dysplasia
  • Genetic syndromic childhood obesity
  • Goldenhar Gorlin Syndrome
  • Hallermann-Streiff syndrome
  • Otocephalus
  • Deletion of part of chromosome 4
  • Orofaciodigital syndrome Gabrielli type
  • Abducens nerve finding
  • Orofaciodigital syndrome type 5
  • Richardson Kirk syndrome
  • Mucopolysaccharidosis-like plus disease
  • Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome
  • Moyamoya disease, short stature, facial dysmorphism, hypergonadotropic hypogonadism
  • Livedo racemosa
  • Microtia aortic arch syndrome
  • Joubert syndrome with oro-facial-digital syndrome
  • Orofaciodigital syndrome with fibular aplasia
  • Orofaciodigital syndrome type 4
  • Intellectual disability, loss of expressive language, facial dysmorphism syndrome
  • Auriculo-condylar syndrome
  • CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome
  • CRANIOFACIAL MICROSOMIA 1
  • Pathological dislocation of bilateral hips
  • Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
  • Syndrome, Apert
  • Craniofaciofrontodigital syndrome
  • Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
  • Special AT-rich sequence-binding protein 2-associated syndrome
  • Cervical vertebral fusion
  • CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome
  • Congenital omphalocele
  • Congenital megalocornea
  • Microsomia, Craniofacial
  • Right aortic arch
  • Oro-facial digital syndrome type 13
  • Fara Chlupackova syndrome
  • Familial omphalocele syndrome with facial dysmorphism
  • Menke Hennekam syndrome
  • Oro-facial digital syndrome type 8
  • PPT (Pfeiffer Palm Teller) syndrome
  • Skraban Deardorff syndrome
  • Arthrogryposis multiplex congenita and whistling face syndrome
  • Hirschsprung disease-intellectual disability syndrome
  • Oral Mandibular Auricular Syndrome
  • Facial dysmorphism, developmental delay, behavioural abnormalities syndrome due to 10p11.21p12.31 microdeletion
  • Hypoglossia-hypodactyly syndrome
  • Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome
  • Orofaciodigital syndrome type 12
  • Microcephaly and chromosomal instability without immunodeficiency
  • Oro-facial digital syndrome type 12
  • Illum syndrome
  • Cerebellar-facial-dental syndrome
  • Intellectual disability, facial dysmorphism, hand anomalies syndrome
  • Witteveen Kolk syndrome
  • X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome
  • Koolen De Vries syndrome
  • Multiple malformation syndrome, moderate short stature, facial
  • Cleft nose
  • Asymmetric head
  • Oral-facial-digital syndrome type 11
  • Roifman Chitayat syndrome
  • Wildervanck's syndrome
  • FOXP1 syndrome
  • Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency
  • Marchesani's syndrome
  • Basel Vanagaite Smirin Yosef syndrome
  • Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency
  • Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome
  • SSS - Sanjad Sakati syndrome
  • SOX5 haploinsufficiency syndrome
  • Deletion of part of long arm of chromosome 5
  • Microphthalmos due to Fryns syndrome
  • Single central eye
  • Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency
  • Juberg Marsidi syndrome
  • Pathological dislocation of right hip
  • Cyclops eye
  • Congenital absence of the kidney
  • Hadziselimovic syndrome
  • Dysplasia, Lateral Facial
  • Oral-facial-digital syndrome Edwards type
  • Preaxial acrofacial dysostosis
  • orofacial digital syndrome
  • ALDH18A1-related de Barsy syndrome
  • Temtamy syndrome
  • BNAR syndrome
  • Oral-mandibular-auricular syndrome
  • Otomandibular syndrome
  • Richieri Costa Pereira syndrome
  • Joubert syndrome with orofaciodigital defect
  • Orofacial-digital syndrome III
  • Microsomias, Craniofacial
  • Ter Haar syndrome
  • Aase Smith type 1 syndrome
  • Hallermann Streiff François syndrome severe form
  • Zechi Ceide syndrome
  • Truncal obesity
  • Syndactylic Oxycephaly
  • Moebius Congenital Oculofacial Paralysis
  • Otocephaly
  • Dextrotransposition of aorta
  • Congenital atrophy of optic nerve
  • Pallister W syndrome
  • Pelviscapular dysplasia syndrome
  • Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy
  • Oral-facial-digital syndrome type 4
  • Orofaciodigital syndrome type 3
  • Schilbach Rott syndrome
  • Chronic deafness
  • Speech delay
  • Cutis laxa, autosomal recessive
  • Dysplasia, Facioauriculovertebral
  • OAV complex
  • Asymmetry of mandible
  • OAV (oculoauriculovertebral) dysplasia
  • Congenital macrocornea
  • Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome
  • WITKOS - Witteveen Kolk syndrome
  • King Denborough syndrome
  • OAV (oculo-auriculo-vertebral) spectrum
  • Isotretinoin-like syndrome
  • Congenital mandibular asymmetry
  • CFM
  • Pierre-Robin sequence
  • Potter facies
  • Internal carotid artery stenosis
  • Orodigitofacial dysostosis
  • Rozin camptodactyly syndrome
  • OFDS
  • Central obesity
  • Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome
  • Cryptophthalmos syndrome (disorder)
  • Cardio-acral-facial syndrome
  • Familial aplasia of the vermis
  • Facial dysmorphism, lens dislocation, anterior segment abnormalities, nontraumatic conjunctive cyst syndrome
  • Pascual Castroviejo syndrome type 1
  • TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
  • Arachnodactyly and intellectual disability with facial dysmorphism syndrome
  • Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome
  • WAC-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome
  • Aneurysm osteoarthritis syndrome
  • Moran Barroso syndrome
  • Deletion of part of chromosome 10
  • Typus Edinburgensis
  • Möbius sequence
  • Camptodactyly with joint contracture and facial skeletal defect syndrome
  • Hanhart's syndrome
  • Tyshchenko syndrome
  • Brachymorphy with spherophakia syndrome
  • de Barsey-Moens-Dierckx syndrome
  • OMM (ophthalmomandibulomelic) syndrome
  • Orofaciodigital syndrome Edwards type
  • Expressive aphasia
  • Congenital spherophakia
  • Fronto-facio-nasal dysplasia
  • Lethal faciocardiomelic dysplasia
  • Congenital dislocation of right hip
  • ALX1-related frontonasal dysplasia
  • Familial pelvis-scapular dysplasia
  • Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome
  • Macrocephaly with spastic paraplegia and dysmorphism syndrome
  • Lanugo
  • Varadi syndrome
  • Pashayan Prozansky syndrome
  • Binder syndrome
  • Hamamy syndrome
  • Ogden syndrome
  • Velo-facial-skeletal syndrome
  • Autosomal recessive spinocerebellar ataxia type 20
  • Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
  • Congenital short ulna
  • Orofaciodigital syndrome type 14
  • Enlarged cornea
  • Microcephaly faciocardioskeletal syndrome
  • Premature aging appearance, developmental delay, cardiac arrhythmia syndrome
  • Jawad syndrome
  • Mucopolysaccharidosis-like syndrome with congenital heart defect and hematopoietic disorder
  • Pierre Robin sequence faciodigital anomaly syndrome
  • Eyes widely set
  • De Die, Smulders, Vles, Fryns syndrome
  • Non-fluent dysphasia
  • Acromegaloid facial appearance syndrome
  • Bifid nose
  • Kapur Toriello syndrome
  • Cryptophthalmos, defect of auricle AND genital anomaly
  • Char syndrome
  • Craniofrontonasal dysplasia
  • Cousin syndrome
  • Intellectual disability Wolff type
  • Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome
  • Oro-facial digital syndrome type 1
  • Pilotto syndrome
  • Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome
  • Acrocephalosyndactyly
  • Prieto Badia Mulas syndrome
  • Imperforate anus
  • Monophthalmus
  • VI nerve palsy
  • Diencephalic mesencephalic junction dysplasia
  • Acro-oto-ocular syndrome
  • AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
  • Papillon Léage Psaume syndrome
  • Stromal antigen 1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome
  • Steinfeld syndrome
  • Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome
  • Lymphoedema, atrial septal defect, facial changes syndrome
  • Ophthalmomandibulomelic dysplasia
  • Maxillonasal dysplasia syndrome
  • THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
  • Xia Gibbs syndrome
  • Sequence, Robin
  • Spondyloepiphyseal dysplasia, retinal dystrophy, immunodeficiency syndrome
  • Klippel-Feil sequence
  • Klippel-Feil syndrome
  • Night blindness
  • Mietens syndrome
  • Non-fluent aphasia
  • Scott craniodigital syndrome
  • Oto-palato-digital syndrome, type II
  • Van den Ende-Gupta syndrome
  • Synophthalmus
  • Maxillonasal dysplasia
  • STAG1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome
  • Freeman Burian syndrome
  • FSS
  • Pfeiffer Palm Teller syndrome
  • CONGEN OCULOFACIAL PARALYSIS MOEBIUS
  • OFD IV - Orofacial-digital syndrome IV
  • pierre robin's syndrome
  • Nyctalopia
  • SCARF syndrome
  • Spherophakia-brachymorphia syndrome
  • Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome
  • DYRK1A syndrome
  • Gorlin-Chaudhry-Moss syndrome
  • RIDDLE (radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties) syndrome
  • X-linked intellectual disability Brooks type
  • Bilateral hearing loss
  • Crowded optic disc
  • oral facial digital syndrome
  • Pierre Robin association
  • Developmental delay, facial dysmorphism syndrome due to MED13L deficiency
  • Intellectual disability, brachydactyly, Pierre Robin syndrome
  • Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome
  • HEMIFACIAL MICROSOMIA
  • Connective tissue disorder due to lysyl hydroxylase-3 deficiency
  • Congenital optic atrophy
  • Congenital livedo reticularis
  • Oro-facial digital syndrome type 11
  • X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome
  • Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome
  • Isolated Pierre Robin sequence
  • OFD II - Orofacial-digital syndrome II
  • Carpenter syndrome
  • Harrod syndrome
  • Oculo-palato-digital syndrome
  • Nasodigitoacoustic syndrome
  • Oculocerebrodental syndrome
  • Hand and foot deformity, flat facies syndrome
  • Megalocornea
  • Taybi syndrome
  • Plagiocephaly
  • DYRK1A-related intellectual disability syndrome
  • OPD (otopalatodigital) spectrum disorder
  • Facial Dysplasia, Lateral
  • Windmill-Vane-Hand Syndrome
  • Fryns syndrome
  • HPE1
  • OAVS
  • FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth) syndrome
  • Plantar lipomatosis, facial dysmorphism, developmental delay syndrome
  • Oromandibular-limb hypogenesis spectrum
  • Acrocephalopolysyndactyly (disorder)
  • Figuera syndrome
  • Oro-facial digital syndrome type 10
  • Anal atresia
  • Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type
  • Bilateral congenital dislocation of hip
  • Metopic ridging, ptosis, facial dysmorphism syndrome
  • Oculodento-osseous dysplasia
  • Pierre Robin sequence, congenital heart defect, talipes syndrome
  • Poliosis
  • Eye retraction syndrome
  • NBS-like (Nijmegen breakage syndrome-like) disorder
  • Dextratransposition of aorta
  • X-linked intellectual disability, nail dystrophy, seizures syndrome
  • CDH - Congenital diaphragmatic hernia
  • Congenital hypoplasia of bone of forearm
  • Crane Heise syndrome
  • Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
  • Hypotelorism, cleft palate, hypospadias syndrome
  • Asymmetric crying face association
  • Acrocephalosyndactyly [Apert]
  • Congenital diaphragmatic hernia
  • Congenital dystrophy of cornea
  • Micrognathia-glossoptosis syndrome
  • Type I Acrocephalosyndactylies
  • Abducens nerve paresis
  • Generalized lipodystrophy, progeroid features, severe intellectual disability syndrome
  • Lymphedema of leg
  • Ladda Zonana Ramer syndrome
  • Frank-Ter Haar syndrome
  • Cafe-au-lait spots
  • Hypoparathyroidism, intellectual disability, dysmorphism syndrome
  • Intellectual disability Buenos Aires type
  • Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • X-linked intellectual disability Siderius type
  • Stilling-Turk-Duane syndrome
  • Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome
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, also report: code(s) to identify all associated manifestations.

What SNOMED CT codes does Q87.0 map to?

Q87.0 maps to 361 SNOMED CT concepts: 6002006, 783061008, 1251450006, 37506004, 1251452003, 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: C0001193, C0265224, C0687154, C0265240, C0221060, and 5 more. The UMLS (Unified Medical Language System) integrates multiple biomedical vocabularies maintained by the U.S. National Library of Medicine.

How does Q87.0 relate to ICF functioning codes?

ICF (International Classification of Functioning, Disability and Health) codes describe how conditions like congen malform syndromes predom affecting facial appearance affect a person's functioning: body functions, activities, participation, and environmental factors. AutoICD provides ICF Core Sets for 12+ conditions and can map clinical text to ICF categories automatically. Browse the ICF directory to explore functioning codes.

What is the ICD-11 equivalent of Q87.0?

Q87.0 maps to the ICD-11 code: LD2Z (Multiple developmental anomalies or syndromes, unspecified).

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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.