Microcephaly (finding)
| Code | 1148757008 |
|---|---|
| Semantic tag | finding |
| Module | international |
| Definition | defined |
| Effective time | 20210731 |
301338002Finding of head circumference
finding
314645002Child HC 0.5th - 1.9th centile
finding
314643009Child HC < 0.4th centile
finding
314644003Child HC = 0.4th centile
finding
314646001Child HC = 2nd centile
finding
702354007Christianson syndrome
disorder
1197059004Congenital ichthyosis, microcephalus, tetraplegia syndrome
disorder
1148758003Congenital microcephaly
disorder
1300188000Congenital pontocerebellar hypoplasia type 11
disorder
717185008Deficiency of leukotriene C4 synthase
disorder
1169356004Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome
disorder
1237619001Fatty acyl-CoA reductase 1 deficiency
disorder
431265009Fetal microcephaly
disorder
1208747005ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
disorder
770725000Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
disorder
1177178005Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome
disorder
1300128003MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
disorder
1260095004Menke Hennekam syndrome
disorder
1172683008Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
disorder
771074000Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome
disorder
770721009Microcephaly, thin corpus callosum, intellectual disability syndrome
disorder
1142005008Mild microcephaly
finding
1217367007PLAA-associated neurodevelopmental disorder
disorder
1237421000PYCR2-related microcephaly, progressive leucoencephalopathy
disorder
1173998003Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome
disorder
1208481000Progressive cerebello-cerebral atrophy
disorder
1142008005Progressive microcephaly
disorder
1172900005Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome
disorder
1197148005Sanjad Sakati syndrome
disorder
253130001Secondary microcephaly
disorder
774149004Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome
disorder
771303004Severe neonatal onset encephalopathy with microcephaly
disorder
1179282009Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract
disorder
1237418002Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome
disorder
1251449006USP18 deficiency
disorder