| syndroom van verstandelijke beperking, hypoplastische corpus callosum en bijoortje (aandoening) | | syndroom van verstandelijke beperking, hypoplastische corpus callosum en bijoortje | | syndroom van mentale retardatie, hypoplastische corpus callosum en bijoortje
syndroom van Da Silva
syndroom van verstandelijke handicap, hypoplastische corpus callosum en bijoortje
| | Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome | | Da Silva syndrome
| | This syndrome has characteristics of hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive. |
| | Id | 722455002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 1495 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | 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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