| syndroom van retinitis pigmentosa, verstandelijke beperking, doofheid en hypogenitalisme (aandoening) | | syndroom van retinitis pigmentosa, verstandelijke beperking, doofheid en hypogenitalisme | | syndroom van retinitis pigmentosa, verstandelijke handicap, doofheid en hypogenitalisme
syndroom van retinitis pigmentosa, mentale retardatie, doofheid en hypogonadisme
| | Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome | | Retinitis pigmentosa, deafness, mental retardation, hypogonadism syndrome
| | An extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993. |
| | Id | 724001005 | | 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 | 3085 |
| 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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