Q02
BillableMicrocephaly
Microcephaly
Status
Billable / Specific
ICD-11 Mapping
1 equivalentCoding Notes
Includes
Conditions included under this code
- hydromicrocephaly
- micrencephalon
Excludes 1
Codes that cannot be used together with this code (mutual exclusion)
Excludes 2
Conditions not included here, but the patient may have both
Code First
The underlying condition must be sequenced before this code
- , if applicable, congenital Zika virus disease
ICD-11 Equivalents(1)
ICD-11 Equivalents
View full mappingCorresponding ICD-11 codes from the WHO crosswalk mapping
Also Known As / Clinical Terms(702)
SNOMED CT
- Inherited disorder of folate metabolism4702003
- Brachycephaly13649004
- Short anteroposterior diameter of skull13649004
- Short broad skull13649004
- Wide skull13649004
- Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts15552004
- ANN - Anonychia23610003
- Anonychia23610003
- Congenital absent nails23610003
- Cornea small26098002
- Microcornea26098002
- Congenital absence of cerebral hemispheres30023002
- Hydranencephaly30023002
- Congenital cerebral porosis38353004
- Congenital porencephalia38353004
- Congenital porencephaly38353004
- Schizencephalic porencephaly38353004
- Hyperaminoaciduria42930003
- Inborn error of amino acid metabolism42930003
- Inborn error of lipoprotein metabolism43465001
- Achalasia of cardia45564002
- Achalasia of esophagus45564002
- Achalasia of oesophagus45564002
- Cardiospasm45564002
- Lack of reflex relaxation of lower esophageal sphincter45564002
- Lack of reflex relaxation of lower oesophageal sphincter45564002
- Neonatal diabetes mellitus49817004
- Psoriasiform dermatitis52230004
- Cortical blindness68574006
- Congenital big ears69056000
- Macrotia69056000
- Congenital humpback71311003
- Congenital hunchback71311003
- Congenital kyphosis71311003
- Big jaw72855002
- Congenital prognathism72855002
- Exognathia72855002
- Progenia72855002
- Prognathia72855002
- Prognathism72855002
- Athetoid cerebral palsy75019001
- Hydromicrocephaly78071008
- Mild intellectual development disorder86765009
- Mild intellectual disability86765009
- Mild mental retardation (I.Q. 50-70)86765009
- Mild mental retardation (Intelligence Quotient 50-70)86765009
- Mild mental retardation, IQ in range 50-7086765009
- Neonatal encephalopathy95628005
- Optic nerve finding106152006
- Second cranial nerve finding106152006
- Disorder of cholesterol metabolism123963007
- Severe combined immunodeficiency with low T- and B-cell numbers190997006
- Spastic quadriplegia192965001
- Spastic tetraplegia192965001
- Lethal osteogenesis imperfecta205496008
- Osteogenesis imperfecta type II205496008
- Osteogenesis imperfecta, perinatal lethal205496008
- Osteogenesis imperfecta, type II205496008
- Dyskinetic cerebral palsy230780007
- Microcephaly, normal intelligence and immunodeficiency234638009
- NBS - Nijmegen breakage syndrome234638009
- Nijmegen breakage syndrome234638009
- Seemanova syndrome II234638009
- SRNS - Steroid-resistant nephrotic syndrome236381000
- Steroid-resistant nephrotic syndrome236381000
- Steroid-unresponsive nephrotic syndrome236381000
- Disorder of cholesterol synthesis238036004
- Marfanoid physique248298009
- Secondary microcephaly253130001
- Osteodysplastic primordial dwarfism254101001
- Malabsorption of glucose267426009
- Congenital nephritis276585000
- Disorder of serine metabolism303097007
- Congenital conduction defect315027009
- Osteoplastic dysplasia389191003
- Congenital kyphoscoliosis405772002
- Fetal microcephaly431265009
- Foetal microcephaly431265009
- Permanent diabetes mellitus of infancy609565001
- Permanent neonatal diabetes mellitus609565001
- Congenital achalasia of esophagus700283004
- Congenital achalasia of oesophagus700283004
- Extrapyramidal cerebral palsy702314005
- Non-spastic cerebral palsy702314005
- Feingold syndrome702431004
- Microcephaly-mesobrachyphalangy-tracheoesophageal fistula syndrome702431004
- Microcephaly-oculo-digito-esophageal-duodenal syndrome702431004
- Microcephaly-oculo-digito-oesophageal-duodenal syndrome702431004
- Oculo-digito-esophagoduodenal syndrome702431004
- Oculo-digito-oesophagoduodenal syndrome702431004
- Amish lethal microcephaly702437000
- Amish microcephaly702437000
- Microcephaly-capillary malformation syndrome703369003
- Hirschsprung disease-intellectual disability syndrome703535000
- Hirschsprung disease-mental retardation syndrome703535000
- Mowat-Wilson syndrome703535000
- Mandibulofacial dysostosis with microcephaly711543008
- Mandibulofacial dysostosis, Guion-Almeida type711543008
- Microcephalus co-occurrent with cervical spine fusion anomaly715462003
- Microcephaly with cervical spine fusion anomaly715462003
- Microcephalus microcornea syndrome of Seemanova type715464002
- Microcephaly microcornea syndrome Seemanova type715464002
- Seemanova Lesny syndrome715464002
- Microcephalic primordial dwarfism Toriello type715482004
- Microcephalic primordial dwarfism of Toriello type715482004
- MMEP syndrome715533002
- Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome715533002
- Syndromic microphthalmia type 8715533002
- Viljoen Smart syndrome715533002
- Colobomatous microphthalmia715771008
- Microphthalmia with colobomatous cyst715771008
- Microphthalmos co-occurrent with congenital ocular coloboma715771008
- Autosomal recessive primary microcephaly715981004
- Microcephalia vera715981004
- True microcephaly715981004
- MacDermot Winter syndrome716023007
- Prominent glabella with microcephaly and hypogenitalism syndrome716023007
- Kawashima Tsuji syndrome716112005
- Microcephaly with deafness and intellectual disability syndrome716112005
- Goldberg Shprintzen megacolon syndrome717822006
- Megacolon microcephaly syndrome717822006
- Achalasia microcephaly syndrome718573009
- Giuffre Tsukahara syndrome719162001
- Radioulnar synostosis with microcephaly and scoliosis syndrome719162001
- Tsukahara syndrome719162001
- Castro Gago Pombo Novo syndrome719377004
- Microcephalus with albinism and digital anomaly syndrome719377004
- Microcephaly with albinism and digital anomaly syndrome719377004
- Microcephalus with brachydactyly and kyphoscoliosis syndrome719378009
- Microcephaly with brachydactyly and kyphoscoliosis syndrome719378009
- Viljoen Kallis Voges syndrome719378009
- Ellis Yale Winter syndrome719379001
- Microcephalus with cardiac defect and lung malsegmentation syndrome719379001
- Microcephaly with cardiac defect and lung malsegmentation syndrome719379001
- Microcephalus cardiomyopathy syndrome719380003
- Microcephaly cardiomyopathy syndrome719380003
- Winship Viljoen Leary syndrome719380003
- Halal syndrome719394002
- Microcephalus cleft palate syndrome719394002
- Microcephaly cleft palate syndrome719394002
- Hadziselimovic syndrome719395001
- Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type719395001
- Microcephaly faciocardioskeletal syndrome719395001
- Anonychia with microcephaly syndrome720494009
- Teebi Kaurah syndrome720494009
- Aphalangy and syndactyly with microcephaly syndrome720498007
- Cernunnos-XLF deficiency720853005
- NHEJ1 (non-homologous end joining factor) syndrome720853005
- Severe combined immunodeficiency due to Cernunnos protein deficiency720853005
- Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome720853005
- Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome720853005
- Galloway Mowat syndrome721297008
- Galloway syndrome721297008
- Microcephaly, hiatus hernia, nephrotic syndrome721297008
- Nephrosis, neuronal dysmigration syndrome721297008
- Microcephaly, hypogammaglobulinaemia, abnormal immunity syndrome721903007
- Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome721903007
- Say Barber Miller syndrome721903007
- Epiphyseal dysplasia, microcephalus, nystagmus syndrome721975004
- Lowry Wood syndrome721975004
- Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome722037004
- MEHMO (mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity) syndrome722037004
- MEHMO syndrome722037004
- Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome722037004
- X-linked intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome722037004
- Severe X-linked intellectual disability Gustavson type722213009
- Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome722281001
- Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome722281001
- Baraitser Brett Piesowicz syndrome722390006
- Bilateral band-like calcification with polymicrogyria722390006
- Congenital intrauterine infection-like syndrome722390006
- Microcephaly, intracranial calcification, intellectual disability syndrome722390006
- Pseudo-TORCH syndrome722390006
- Congenital atrophy of optic nerve722990003
- Congenital optic atrophy722990003
- Microcephaly, seizure, intellectual disability, heart disease syndrome723304001
- Microcephalic osteodysplastic dysplasia Saul Wilson type723404002
- Microcephalic primordial dwarfism Walsh type724141003
- Microcephalic primordial dwarfism due to ZNF335 (zinc finger protein 335) deficiency724141003
- Microcephalic primordial dwarfism due to ZNF335 deficiency724141003
- Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency724141003
- Microcephalic osteodysplastic primordial dwarfism Taybi Linder type725461009
- Microcephalic osteodysplastic primordial dwarfism types I and III725461009
- Primordial microcephalic dwarfism Crachami type725461009
- Taybi Linder syndrome725461009
- Battaglia Neri syndrome733031004
- Epilepsy, microcephaly, skeletal dysplasia syndrome733031004
- Microcephalus, hypergonadotropic hypogonadism, short stature syndrome733092009
- Mikati Najjar Sahli syndrome733092009
- Microcephalus, glomerulonephritis, marfanoid habitus syndrome733472005
- MLCRD (microcephaly with or without chorioretinopathy, lymphedema or intellectual disability) syndrome733604003
- MLCRD (microcephaly with or without chorioretinopathy, lymphoedema or intellectual disability) syndrome733604003
- Microcephalus, lymphedema, chorioretinopathy syndrome733604003
- Microcephalus, lymphoedema, chorioretinopathy syndrome733604003
- Cleft palate, large ears, small head syndrome763130006
- Say Barber Hobbs syndrome763130006
- Insulin resistance763325000
- Sporadic fetal brain disruption sequence763717004
- Sporadic foetal brain disruption sequence763717004
- Microcephalus, complex motor and sensory axonal neuropathy syndrome763798008
- Microcephaly, complex motor and sensory axonal neuropathy syndrome763798008
- Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome764732004
- Microcephaly, cerebellar hypoplasia, congenital heart conduction defect syndrome764732004
- Zaki Gleeson syndrome764732004
- Bird-headed dwarfism Montreal type765758008
- Microcephalic primordial dwarfism Montreal type765758008
- Microcephaly and chromosomal instability without immunodeficiency766753005
- NBS-like (Nijmegen breakage syndrome-like) disorder766753005
- Nijmegen breakage syndrome-like disorder766753005
- RAD50 deficiency766753005
- Autosomal recessive chorioretinopathy and microcephaly syndrome770404004
- Autosomal recessive chorioretinopathy, microcephaly, intellectual disability syndrome770404004
- Alazami syndrome770564004
- Microcephalic primordial dwarfism Alazami type770564004
- Microcephalic primordial dwarfism Dauber type770565003
- Franek Bocker Kahlen syndrome770655004
- Microcephalus, brain defect, spasticity, hypernatraemia syndrome770655004
- Microcephalus, brain defect, spasticity, hypernatremia syndrome770655004
- Microcephaly, thin corpus callosum, intellectual disability syndrome770721009
- Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly770725000
- Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome771074000
- Hypernatraemia771115008
- Hypernatremia771115008
- Na excess771115008
- Na overload771115008
- Sodium overload771115008
- X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome771148008
- X-linked colobomatous microphthalmia, microcephaly, short stature, psychomotor retardation syndrome771148008
- Char Douglas Dungan syndrome771179007
- Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome771179007
- MECP2-related severe neonatal encephalopathy771303004
- Severe congenital encephalopathy due to MECP2 (methyl-CpG binding protein 2) mutation771303004
- Severe congenital encephalopathy due to MECP2 mutation771303004
- Severe congenital encephalopathy due to methyl-CpG binding protein 2 mutation771303004
- Severe neonatal onset encephalopathy with microcephaly771303004
- Microcephaly, polymicrogyria, corpus callosum agenesis syndrome773305003
- Bainbridge Ropers syndrome773400009
- Severe feeding difficulties, failure to thrive, microcephaly due to ASXL transcriptional regulator 3 deficiency syndrome773400009
- Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome773400009
- CTCF-related neurodevelopmental disorder773552008
- Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome773552008
- 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
- Porencephaly, microcephaly, bilateral congenital cataract syndrome773627004
- Hypogonadotropic hypogonadism, severe microcephaly, sensorineural deafness, dysmorphism syndrome773665006
- Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome773665006
- IQSEC2 (IQ motif and Sec7 domain 2) related syndromic intellectual disability774149004
- IQSEC2-related syndromic intellectual disability774149004
- Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome774149004
- Autosomal dominant primary microcephaly778070003
- Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome782737003
- Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome782755007
- Asparagine synthetase deficiency782757004
- Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome782757004
- Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome782825008
- Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome783005002
- Microcephaly with simplified gyral pattern1003373003
- Microlissencephaly1003374009
- Atrophy of cerebellar vermis1144387007
- Diffuse atrophy of cerebellar structure1144426002
- Diffuse atrophy of cerebellum1144426002
- Diffuse atrophy of cerebral structure1144427006
- Diffuse atrophy of cerebrum1144427006
- Global brain atrophy1144430004
- Microcephalus1148757008
- Microcephaly1148757008
- Congenital microcephalus1148758003
- Congenital microcephaly1148758003
- Congenital microencephaly1149087003
- Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome1167375003
- Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome1172593006
- Microcephaly, congenital cataract, psoriasiform dermatitis syndrome1172683008
- SMO (sterol-C4-methyl oxidase) deficiency1172683008
- Sterol-C4-methyl oxidase deficiency1172683008
- Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome1172900005
- Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome1173998003
- Microcephalic cortical malformations, short stature due to RTTN (rotatin) deficiency1187195007
- Microcephalic cortical malformations, short stature due to RTTN deficiency1187195007
- Microcephalic cortical malformations, short stature due to rotatin deficiency1187195007
- Congenital ichthyosis, microcephalus, quadriplegia syndrome1197059004
- Congenital ichthyosis, microcephalus, tetraplegia syndrome1197059004
- X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome1197588008
- MOPD (microcephalic osteodysplastic primordial dwarfism) type II1208348002
- Majewski osteodysplastic primordial dwarfism type II1208348002
- Microcephalic osteodysplastic primordial dwarfism type II1208348002
- Microcephalic primordial dwarfism, insulin resistance syndrome1220596009
- DNA replication fork stabilisation factor DONSON-related microcephaly, short stature, limb abnormalities spectrum1236845001
- DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum1236845001
- DONSON-related microcephaly, short stature, limb abnormalities spectrum1236845001
- ASCT1 deficiency1237418002
- Spastic quadriplegia, thin corpus callosum, progressive postnatal microcephaly syndrome1237418002
- Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome1237418002
- 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
- MHAC - microhydranencephaly1237462006
- NDE1-related microhydranencephaly1237462006
- nudE neurodevelopment protein 1-related microhydranencephaly1237462006
- USP18 deficiency1251449006
- Ubiquitin specific peptidase 18 deficiency1251449006
- Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome1254650002
- Microcephaly, intellectual disability, sensorineural deafness, epilepsy, abnormal muscle tone syndrome1254651003
- Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome1254651003
- Congenital radioulnar synostosis1268409009
- Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome1279889005
- MECP2 (methyl-cytosine phosphate guanine binding protein-2) disorder1296869000
- MECP2 related disorder1296869000
- Methyl-CpG (cytosine phosphate guanine) binding protein-2 disorder1296869000
- Methyl-CpG binding protein 2 related disorder1296869000
- Methyl-cytosine phosphate guanine binding protein-2 related disorder1296869000
- SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome1300119004
- SETD2 (SET domain containing 2, histone lysine methyltransferase) related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome1300119004
- SETD2-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome1300119004
- MTHFS (methenyltetrahydrofolate synthetase) related developmental delay, microcephaly, short stature, epilepsy syndrome1300128003
- MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome1300128003
- Methenyltetrahydrofolate synthetase-related developmental delay, microcephaly, short stature, epilepsy syndrome1300128003
- CIMDAG (cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anaemia, growth retardation) syndrome1332508004
- CIMDAG (cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anemia, growth retardation) syndrome1332508004
- CIMDAG syndrome1332508004
- Cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anaemia, growth retardation syndrome1332508004
- Cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anemia, growth retardation syndrome1332508004
- Baralle Macken syndrome1351838008
- Intellectual disability, early-onset cataract, microcephaly syndrome1351838008
- Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome with combined immunodeficiency due to diaphanous related formin 1 mutation1354858008
- Progressive microcephaly, seizures, cortical blindness, developmental delay with combined immunodeficiency due to DIAPH1 deficiency1354858008
- Progressive microcephaly, seizures, cortical blindness, developmental delay with combined immunodeficiency due to DIAPH1 mutation1354858008
- SCBMS (seizures, cortical blindness, microcephaly syndrome) with combined immunodeficiency due to DIAPH1 mutation1354858008
- Body height below reference range1363478003
- Bilateral congenital cataract of eyes346721000119108
- Congenital cataract of bilateral eyes346721000119108
- Congenital cataract of both eyes346721000119108
- Congenital hypoplasia of brain127551000119100
- Fetal malformation of central nervous system9721000119107
- Foetal malformation of central nervous system9721000119107
- Malformation of central nervous system of fetus9721000119107
- Malformation of central nervous system of foetus9721000119107
- Hereditary cerebellar atrophy431641000124107
UMLS
- HydromicrocephalyC0266460
- Hydromicrocephaly (disorder)C0266460
- hydromicrocephalyC0266460
- MicrocephalicC0025958
- MicrocephaliesC0025958
- MicrocephalusC0025958
- MicrocephalyC0025958
- MicroencephalyC0025958
- micrencephalonC0025958
- micrencephalyC0025958
- microcephaliC0025958
- microcephalicC0025958
- microcephaliesC0025958
- microcephalusC0025958
- microcephalyC0025958
- microencephalyC0025958
Clinical Terms
- MHAC - microhydranencephaly
- PYCR2-related microcephaly, progressive leucoencephalopathy
- Viljoen Smart syndrome
- Steroid-resistant nephrotic syndrome
- Microcephalia vera
- Baraitser Brett Piesowicz syndrome
- Exognathia
- ASCT1 deficiency
- Congenital porencephalia
- Congenital cataract of both eyes
- Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type
- Cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anaemia, growth retardation syndrome
- Secondary microcephaly
- BBIS - Beaulieu Boycott Innes syndrome
- Mild intellectual development disorder
- microcephali
- Non-spastic cerebral palsy
- Methyl-CpG binding protein 2 related disorder
- nudE neurodevelopment protein 1-related microhydranencephaly
- Feingold syndrome
- Microcephaly, hiatus hernia, nephrotic syndrome
- Second cranial nerve finding
- Microcephalic primordial dwarfism due to ZNF335 deficiency
- Epilepsy, microcephaly, skeletal dysplasia syndrome
- Microcephalic osteodysplastic primordial dwarfism Taybi Linder type
- Mandibulofacial dysostosis with microcephaly
- Goldberg Shprintzen megacolon syndrome
- Progenia
- Microcephaly, thin corpus callosum, intellectual disability syndrome
- Congenital absent nails
- Achalasia of cardia
- Short anteroposterior diameter of skull
- SETD2-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome
- Congenital hypoplasia of brain
- Microcephalus, brain defect, spasticity, hypernatremia syndrome
- Microcephaly with cardiac defect and lung malsegmentation syndrome
- Na excess
- Microcephaly, hypogammaglobulinaemia, abnormal immunity syndrome
- Hypogonadotropic hypogonadism, severe microcephaly, sensorineural deafness, dysmorphism syndrome
- Microcephalus co-occurrent with cervical spine fusion anomaly
- Achalasia of oesophagus
- Microcephaly with deafness and intellectual disability syndrome
- SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome
- Microcephalus with albinism and digital anomaly syndrome
- Insulin resistance
- Lethal osteogenesis imperfecta
- IQSEC2-related syndromic intellectual disability
- Achalasia microcephaly syndrome
- CIMDAG syndrome
- Microcephalic osteodysplastic dysplasia Saul Wilson type
- Colobomatous microphthalmia
- Hirschsprung disease-mental retardation syndrome
- Severe neonatal onset encephalopathy with microcephaly
- Amish microcephaly
- Autosomal recessive primary microcephaly
- SCBMS (seizures, cortical blindness, microcephaly syndrome) with combined immunodeficiency due to DIAPH1 mutation
- Neonatal diabetes mellitus
- Congenital kyphosis
- Microcephaly-mesobrachyphalangy-tracheoesophageal fistula syndrome
- Malformation of central nervous system of fetus
- Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency
- Congenital ichthyosis, microcephalus, tetraplegia syndrome
- Microcephalic primordial dwarfism Dauber type
- Galloway Mowat syndrome
- Say Barber Miller syndrome
- Bainbridge Ropers syndrome
- microcephalies
- Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome
- Osteogenesis imperfecta, perinatal lethal
- Viljoen Kallis Voges syndrome
- Megacolon microcephaly syndrome
- Microcephalus, hypergonadotropic hypogonadism, short stature syndrome
- Extrapyramidal cerebral palsy
- Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome
- Osteogenesis imperfecta type II
- Mild mental retardation (Intelligence Quotient 50-70)
- Oculo-digito-oesophagoduodenal syndrome
- Epiphyseal dysplasia, microcephalus, nystagmus syndrome
- Cortical blindness
- Microcephalus, glomerulonephritis, marfanoid habitus syndrome
- Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome
- MLCRD (microcephaly with or without chorioretinopathy, lymphoedema or intellectual disability) syndrome
- Hypernatraemia
- Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
- Congenital cataract of bilateral eyes
- Macrotia
- Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome
- Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome
- Sporadic fetal brain disruption sequence
- Ubiquitin specific peptidase 18 deficiency
- Porencephaly, microcephaly, bilateral congenital cataract syndrome
- Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
- Disorder of serine metabolism
- Methyl-CpG (cytosine phosphate guanine) binding protein-2 disorder
- Microcephalic cortical malformations, short stature due to rotatin deficiency
- Microcephalus, brain defect, spasticity, hypernatraemia syndrome
- Syndromic microphthalmia type 8
- Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
- MLCRD (microcephaly with or without chorioretinopathy, lymphedema or intellectual disability) syndrome
- Aphalangy and syndactyly with microcephaly syndrome
- Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome
- Microcornea
- RAD50 deficiency
- Microcephalic primordial dwarfism Alazami type
- Big jaw
- Hydromicrocephaly
- Microcephaly cleft palate syndrome
- Foetal microcephaly
- Diffuse atrophy of cerebellum
- X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome
- Giuffre Tsukahara syndrome
- MEHMO syndrome
- MacDermot Winter syndrome
- Congenital prognathism
- Osteoplastic dysplasia
- Halal syndrome
- Microcephaly cardiomyopathy syndrome
- Microcephaly with cervical spine fusion anomaly
- Microcephalic primordial dwarfism, insulin resistance syndrome
- Inborn error of amino acid metabolism
- Na overload
- Congenital microencephaly
- Cernunnos-XLF deficiency
- Bird-headed dwarfism Montreal type
- Hydranencephaly
- Microcephaly-oculo-digito-oesophageal-duodenal syndrome
- Hypernatremia
- Congenital nephritis
- Wide skull
- Prominent glabella with microcephaly and hypogenitalism syndrome
- Congenital intrauterine infection-like syndrome
- Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome
- Bilateral band-like calcification with polymicrogyria
- Autosomal recessive chorioretinopathy and microcephaly syndrome
- Seemanova Lesny syndrome
- Mild mental retardation (I.Q. 50-70)
- Body height below reference range
- Microencephaly
- Taybi Linder syndrome
- Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome
- MMEP syndrome
- Permanent diabetes mellitus of infancy
- THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome
- MECP2-related severe neonatal encephalopathy
- Osteodysplastic primordial dwarfism
- MOPD (microcephalic osteodysplastic primordial dwarfism) type II
- Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
- Progressive microcephaly, seizures, cortical blindness, developmental delay with combined immunodeficiency due to DIAPH1 deficiency
- SETD2 (SET domain containing 2, histone lysine methyltransferase) related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome
- Battaglia Neri syndrome
- MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
- Cardiospasm
- Hyperaminoaciduria
- Majewski osteodysplastic primordial dwarfism type II
- Lowry Wood syndrome
- Microcephaly with brachydactyly and kyphoscoliosis syndrome
- Seemanova syndrome II
- Microcephaly, normal intelligence and immunodeficiency
- Malabsorption of glucose
- True microcephaly
- Congenital achalasia of esophagus
- Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome
- Foetal malformation of central nervous system
- Fetal microcephaly
- DNA replication fork stabilisation factor DONSON-related microcephaly, short stature, limb abnormalities spectrum
- Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome
- SMO (sterol-C4-methyl oxidase) deficiency
- Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome
- Mowat-Wilson syndrome
- Microcephaly-capillary malformation syndrome
- Optic nerve finding
- CTCF-related neurodevelopmental disorder
- DONSON-related microcephaly, short stature, limb abnormalities spectrum
- Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome
- Global brain atrophy
- Marfanoid physique
- PYCR2-related microcephaly, progressive leukoencephalopathy
- MTHFS (methenyltetrahydrofolate synthetase) related developmental delay, microcephaly, short stature, epilepsy syndrome
- Microcephalic
- Nijmegen breakage syndrome
- Brachycephaly
- Autosomal recessive chorioretinopathy, microcephaly, intellectual disability syndrome
- Cornea small
- Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leucoencephalopathy
- Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome
- Lack of reflex relaxation of lower oesophageal sphincter
- Microcephaly, intellectual disability, sensorineural deafness, epilepsy, abnormal muscle tone syndrome
- Nijmegen breakage syndrome-like disorder
- Microcephaly, cerebellar hypoplasia, congenital heart conduction defect syndrome
- ANN - Anonychia
- Congenital kyphoscoliosis
- Congenital cerebral porosis
- Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
- Microcephaly, seizure, intellectual disability, heart disease syndrome
- Microcephalus, complex motor and sensory axonal neuropathy syndrome
- IQSEC2 (IQ motif and Sec7 domain 2) related syndromic intellectual disability
- Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
- X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome
- Microcephalus with cardiac defect and lung malsegmentation syndrome
- Oculo-digito-esophagoduodenal syndrome
- Beaulieu Boycott Innes syndrome
- Congenital conduction defect
- NHEJ1 (non-homologous end joining factor) syndrome
- Short broad skull
- Char Douglas Dungan syndrome
- Microcephalic primordial dwarfism Toriello type
- Prognathism
- Severe congenital encephalopathy due to MECP2 (methyl-CpG binding protein 2) mutation
- Microcephalic primordial dwarfism of Toriello type
- micrencephalon
- Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome
- Microcephalus with brachydactyly and kyphoscoliosis syndrome
- Microcephaly microcornea syndrome Seemanova type
- Ellis Yale Winter syndrome
- Congenital porencephaly
- Severe X-linked intellectual disability Gustavson type
- Progressive microcephaly, seizures, cortical blindness, developmental delay with combined immunodeficiency due to DIAPH1 mutation
- Spastic quadriplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
- Severe congenital encephalopathy due to MECP2 mutation
- X-linked intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome
- Congenital hunchback
- Anonychia with microcephaly syndrome
- Mild intellectual disability
- Methenyltetrahydrofolate synthetase-related developmental delay, microcephaly, short stature, epilepsy syndrome
- Microcephalic primordial dwarfism Walsh type
- Malformation of central nervous system of foetus
- Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome
- Hydromicrocephaly (disorder)
- Psoriasiform dermatitis
- Microcephalus cardiomyopathy syndrome
- Alazami syndrome
- Microcephaly-oculo-digito-esophageal-duodenal syndrome
- Intellectual disability, early-onset cataract, microcephaly syndrome
- Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome
- SRNS - Steroid-resistant nephrotic syndrome
- Mandibulofacial dysostosis, Guion-Almeida type
- Microcephaly with simplified gyral pattern
- Microcephalic primordial dwarfism due to ZNF335 (zinc finger protein 335) deficiency
- Zaki Gleeson syndrome
- Say Barber Hobbs syndrome
- Hirschsprung disease-intellectual disability syndrome
- micrencephaly
- Mikati Najjar Sahli syndrome
- Neonatal encephalopathy
- Sporadic foetal brain disruption sequence
- Fetal malformation of central nervous system
- Microlissencephaly
- Microcephaly and chromosomal instability without immunodeficiency
- Disorder of cholesterol synthesis
- Sodium overload
- microcephalus
- Microcephalic cortical malformations, short stature due to RTTN (rotatin) deficiency
- Franek Bocker Kahlen syndrome
- DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum
- Disorder of cholesterol metabolism
- Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome
- Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome with combined immunodeficiency due to diaphanous related formin 1 mutation
- MECP2 related disorder
- Microcephalus cleft palate syndrome
- MEHMO (mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity) syndrome
- Winship Viljoen Leary syndrome
- Hadziselimovic syndrome
- Inherited disorder of folate metabolism
- Primordial microcephalic dwarfism Crachami type
- Congenital achalasia of oesophagus
- Teebi Kaurah syndrome
- Congenital microcephaly
- Congenital atrophy of optic nerve
- Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy
- Autosomal dominant primary microcephaly
- Microphthalmia with colobomatous cyst
- Severe combined immunodeficiency due to Cernunnos protein deficiency
- Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
- Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome
- Lack of reflex relaxation of lower esophageal sphincter
- Diffuse atrophy of cerebrum
- Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome
- Nephrosis, neuronal dysmigration syndrome
- Microcephaly, polymicrogyria, corpus callosum agenesis syndrome
- Hereditary cerebellar atrophy
- Congenital humpback
- Diffuse atrophy of cerebral structure
- Sterol-C4-methyl oxidase deficiency
- Microcephalic osteodysplastic primordial dwarfism types I and III
- Atrophy of cerebellar vermis
- MECP2 (methyl-cytosine phosphate guanine binding protein-2) disorder
- Microcephalus microcornea syndrome of Seemanova type
- Mild mental retardation, IQ in range 50-70
- Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome
- Inborn error of lipoprotein metabolism
- Microcephaly, intracranial calcification, intellectual disability syndrome
- NDE1-related microhydranencephaly
- Cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anemia, growth retardation syndrome
- Radioulnar synostosis with microcephaly and scoliosis syndrome
- CIMDAG (cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anaemia, growth retardation) syndrome
- Tsukahara syndrome
- Congenital radioulnar synostosis
- Baralle Macken syndrome
- Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome
- Microcephalus, lymphedema, chorioretinopathy syndrome
- Congenital big ears
- Cleft palate, large ears, small head syndrome
- Galloway syndrome
- Spastic tetraplegia
- Achalasia of esophagus
- Microcephaly faciocardioskeletal syndrome
- NBS - Nijmegen breakage syndrome
- Osteogenesis imperfecta, type II
- Bilateral congenital cataract of eyes
- Amish lethal microcephaly
- Steroid-unresponsive nephrotic syndrome
- Microcephalic primordial dwarfism Montreal type
- USP18 deficiency
- Congenital microcephalus
- Microcephalus, lymphoedema, chorioretinopathy syndrome
- Castro Gago Pombo Novo syndrome
- Pseudo-TORCH syndrome
- THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
- Prognathia
- Congenital ichthyosis, microcephalus, quadriplegia syndrome
- Methyl-cytosine phosphate guanine binding protein-2 related disorder
- Microcephalic cortical malformations, short stature due to RTTN deficiency
- Severe combined immunodeficiency with low T- and B-cell numbers
- Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
- Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome
- CIMDAG (cerebellar hypoplasia, intellectual disability, congenital microcephaly, dystonia, anemia, growth retardation) syndrome
- Anonychia
- Congenital absence of cerebral hemispheres
- Congenital optic atrophy
- Microcephalic osteodysplastic primordial dwarfism type II
- Dyskinetic cerebral palsy
- X-linked colobomatous microphthalmia, microcephaly, short stature, psychomotor retardation syndrome
- Microcephaly, complex motor and sensory axonal neuropathy syndrome
- Kawashima Tsuji syndrome
- Microcephaly with albinism and digital anomaly syndrome
- Schizencephalic porencephaly
- Diffuse atrophy of cerebellar structure
- Permanent neonatal diabetes mellitus
- Microphthalmos co-occurrent with congenital ocular coloboma
- Severe feeding difficulties, failure to thrive, microcephaly due to ASXL transcriptional regulator 3 deficiency syndrome
- Athetoid cerebral palsy
- NBS-like (Nijmegen breakage syndrome-like) disorder
- Spastic quadriplegia
- Severe congenital encephalopathy due to methyl-CpG binding protein 2 mutation
- Asparagine synthetase deficiency
- Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome
Frequently Asked Questions
What is the ICD-10 code for microcephaly?
The ICD-10-CM code for microcephaly is Q02. The full clinical description is "Microcephaly". Q02 is a billable/specific code that can be used on insurance claims and medical billing.
What does ICD-10 code Q02 mean?
ICD-10-CM code Q02 represents “Microcephaly”. 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 Q02 a billable code?
Yes, Q02 is a billable/specific ICD-10-CM code and can be used to indicate a diagnosis on a medical claim.
What chapter is Q02 in?
Q02 is in Chapter 17: Congenital Malformations, Deformations and Chromosomal Abnormalities (codes Q00-Q99).
What codes cannot be used with Q02?
Q02 has Excludes1 notes indicating codes that cannot be used together with it, including: Meckel-Gruber syndrome (Q61.9).
What SNOMED CT codes does Q02 map to?
Q02 maps to 153 SNOMED CT concepts: 23610003, 1237418002, 718573009, 45564002, 722281001, and 148 more. SNOMED CT is a clinical terminology used in electronic health records.
What are the UMLS CUIs for Q02?
Q02 is linked to 2 UMLS Concept Unique Identifiers: C0266460, C0025958. The UMLS (Unified Medical Language System) integrates multiple biomedical vocabularies maintained by the U.S. National Library of Medicine.
How does Q02 relate to ICF functioning codes?
ICF (International Classification of Functioning, Disability and Health) codes describe how conditions like microcephaly 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 Q02?
Q02 maps to the ICD-11 code: LA05.0 (Microcephaly).
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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.