| syndroom van microcefalie, hypoplasie van corpus callosum en vermis cerebelli, faciale dysmorfie en verstandelijke beperking (aandoening) | | syndroom van microcefalie, hypoplasie van corpus callosum en vermis cerebelli, faciale dysmorfie en verstandelijke beperking | | syndroom van microcefalie, hypoplasie van corpus callosum en vermis cerebelli, faciale dysmorfie en mentale retardatie
syndroom van microcefalie, hypoplasie van corpus callosum en vermis cerebelli, faciale dysmorfie en verstandelijke handicap
| | Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome | | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay and moderate to severe intellectual disability, as well as variable other manifestations, such as macro- or microcephaly, epilepsy, hypotonia, stereotypic movements and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, upturned nose, dysplastic ears, and broad mouth). Brain imaging may show cerebellar anomalies, hypoplastic corpus callosum, enlarged ventricles, polymicrogyria or white matter abnormalities. |
| | Id | 1167375003 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 500159 |
| 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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