| Capra-DeMarco-syndroom (aandoening) | | Capra-DeMarco-syndroom | | syndroom van craniosynostose, hydrocefalie, malformatie van Arnold-Chiari type 1 en radio-ulnaire synostose
syndroom van Capra-DeMarco
syndroom van familiale scafocefalie en radio-ulnaire synostose
| | Capra DeMarco syndrome | | Familial scaphocephaly with radioulnar synostosis syndrome
Berant syndrome
Craniosynostosis, hydrocephalus, Arnold Chiari I malformation, radioulnar synostosis
| | Syndrome with characteristics of sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism. The syndrome was described in two brothers from a non-consanguineous family. No causative mutation has been identified so far. |
| | Id | 720815000 | | 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 | 171839 |
| 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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