| syndroom van gespleten hand, gespleten voet en doofheid (aandoening) | | syndroom van gespleten hand, gespleten voet en doofheid | | Split hand, split foot malformation with sensorineural hearing loss syndrome | | Congenital deafness with split hands and feet
| | An extremely rare genetic syndrome with clinical characteristics of split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. There is evidence this syndrome may be caused by homozygous mutation in the DLX5 gene on chromosome 7q21. |
| | Id | 723611008 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.2 | | Term | Congenitale gestoorde-ontwikkelingssyndromen van hoofdzakelijk extremiteiten |
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| SNOMED CT to Orphanet simple map | 71271 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.2 | | Rule | TRUE | | Advice | ALWAYS Q87.2 | 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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