| syndroom van agenesie van corpus callosum, macrocefalie en hypertelorisme (aandoening) | | syndroom van agenesie van corpus callosum, macrocefalie en hypertelorisme | | 7q36.3-microduplicatiesyndroom
syndroom van afwezigheid van corpus callosum, macrocefalie en hypertelorisme
| | Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome | | 7q36.3 microduplication syndrome
| | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by agenesis of the corpus callosum, borderline or mild intellectual disability, macrocephaly, and dysmorphic facial features (broad forehead, widely spaced eyes). Chiari type I malformation has also been reported in association. |
| | Id | 1208720000 | | Status | Primitive |
| SNOMED CT to Orphanet simple map |
| SNOMED CT to ICD-10 extended map | | Target | Q04.0 | | Rule | TRUE | | Advice | ALWAYS Q04.0 | 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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