| syndroom van onkambaar haar, retinale pigmentdystrofie, dentale anomalie en brachydactylie (aandoening) | | syndroom van onkambaar haar, retinale pigmentdystrofie, dentale anomalie en brachydactylie | | Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome | | Bork syndrome
Tricho-retino-dento-digital syndrome
| | An autosomal dominant ectodermal dysplasia syndrome, with characteristics of uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia and associated with early-onset cataract, retinal pigmentary dystrophy and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients. |
| | Id | 719910004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q82.4 | | Term | Ectodermale dysplasie (anhidrotisch) |
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| SNOMED CT to Orphanet simple map | 1264 |
| SNOMED CT to ICD-10 extended map | | Target | Q82.4 | | Rule | TRUE | | Advice | ALWAYS Q82.4 | 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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