syndroom van trichomegalie, retinale pigmentdegeneratie en dwerggroei (aandoening) | | syndroom van trichomegalie, retinale pigmentdegeneratie en dwerggroei | | syndroom van trichomegalie, retinitis pigmentosa en groeiretardatie
| | Oliver McFarlane syndrome | | Trichomegaly with retina pigmentary degeneration and dwarfism syndrome
| | This syndrome has characteristics of growth retardation, alopecia, abnormally long eyelashes and retinitis pigmentosa. Moderate intellectual deficit was also present in the majority of cases. To date, 11 cases have been reported. Transmission is thought to be autosomal recessive. |
| Id | 719944006 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
SNOMED CT to Orphanet simple map | 3363 |
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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