| syndroom van microcefalie, hypoplasie van corpus callosum, verstandelijke beperking en congenitale afwijking van aangezicht (aandoening) | | syndroom van microcefalie, hypoplasie van corpus callosum, verstandelijke beperking en congenitale afwijking van aangezicht | | syndroom van microcefalie, hypoplastisch corpus callosum, mentale retardatie en congenitale misvorming van aangezicht
syndroom van microcefalie, hypoplasie van corpus callosum, verstandelijke handicap en congenitale afwijking van gelaat
| | Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome | | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of variable degrees of developmental delay and intellectual disability with poor or absent speech, hypotonia, hypoplastic or absent corpus callosum and facial dysmorphism (such as long face, frontal bossing, hypertelorism, downslanting palpebral fissures and tented upper lip). Additional reported features include microcephaly, seizures, gait ataxia, scoliosis, and syndactyly of fingers, among others. |
| | Id | 1254650002 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 457284 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.0 | | Rule | TRUE | | Advice | ALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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