syndroom van hypogonadotroop hypogonadisme en frontopariëtale alopecie (aandoening) | | syndroom van hypogonadotroop hypogonadisme en frontopariëtale alopecie | | Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome | | Salti Salem syndrome
| | Syndrome with the association of hypogonadotropic hypogonadism and frontoparietal alopecia. It has been described in six members (four males and two females) of a consanguineous Lebanese family. In addition to frontoparietal alopecia, the remaining scalp hair was also sparse and axillary and pubic hair was absent. Despite the family history of consanguinity, autosomal dominant inheritance with reduced penetrance was considered as the most likely mode of transmission. |
| Id | 721842008 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | E23.0 | Term | Hypopituïtarisme |
Target | L65.9 | Term | Haarverlies zonder littekenvorming, niet gespecificeerd |
|
SNOMED CT to Orphanet simple map | 2230 |
SNOMED CT to ICD-10 extended map | Target | E23.0 | Rule | TRUE | Advice | ALWAYS E23.0 | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | Q84.0 | Rule | TRUE | Advice | ALWAYS Q84.0 | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|