| syndroom van verstandelijke beperking, craniofaciale dysmorfie, hypogonadisme en diabetes mellitus (aandoening) | | syndroom van verstandelijke beperking, craniofaciale dysmorfie, hypogonadisme en diabetes mellitus | | syndroom van verstandelijke beperking, craniofaciale dysmorfie, hypogenitalisme en diabetes mellitus
| | Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome | | Mental retardation syndrome Belgian type
| | A rare, genetic, syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, facial dysmorphism (including a long face, deep-set eyes, narrow-based, broad nose with nostril colobomata, mandibular prognathism), hypergonadotrophic hypogonadism, eunuchoid habitus, diabetes mellitus type 1, and epilepsy. There have been no further descriptions in the literature since 1990. |
| | Id | 722454003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.0 | | Term | Congenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan |
|
| SNOMED CT to Orphanet simple map | 3044 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.0 | | Rule | TRUE | | Advice | ALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
