| Wolfram-syndroom (aandoening) | | Wolfram-syndroom | | DIDMOAD-syndroom
syndroom van Wolfram
| | Syndroom gekenmerkt door diabetes insipidus, diabetes mellitus, opticusatrofie en doofheid. | | syndroom van Wolfram | | Wolfram-syndroom
| | Dit is een aangeboren aandoening met als belangrijkste symptomen diabetes insipidus, diabetes mellitus, optische atrofie en doofheid. | | Wolfram syndrome | | DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, deafness) syndrome
Marquardt-Loriaux syndrome
DIDMOAD syndrome
| | A rare genetic endocrine disorder with characteristics of type 1 diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Two types of Wolfram syndrome may be distinguished: type 1 (WS1) and type 2 (WS2). Two causative genes have been identified: WFS1 (4p16.1) and CISD2 (4q24). The clinical criteria for Wolfram syndrome diagnosis are juvenile-onset diabetes mellitus and optic atrophy, family history of Wolfram syndrome or diabetes mellitus and deafness. Transmission is autosomal recessive. |
| | Id | 70694009 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E13.8 | | Term | Overige gespecificeerde vormen van diabetes mellitus; Met niet gespecificeerde complicaties |
| Target | E14.6 | | Term | Niet gespecificeerde diabetes mellitus; Met overige gespecificeerde complicaties |
| Target | E23.2 | | Term | Diabetes insipidus |
| Target | H47.2 | | Term | Opticusatrofie |
| Target | H91.9 | | Term | Gehoorverlies, niet gespecificeerd |
|
| SNOMED CT to Orphanet simple map | 3463 |
| SNOMED CT to ICD-10 extended map | | Target | E13.8 | | Rule | TRUE | | Advice | ALWAYS E13.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
