| syndroom van hypergonadotroop hypogonadisme, verstandelijke beperking en skeletafwijking bij man (aandoening) | | syndroom van hypergonadotroop hypogonadisme, verstandelijke beperking en skeletafwijking bij man | | syndroom van hypergonadotroop hypogonadisme, mentale retardatie en skeletafwijking bij man
syndroom van hypergonadotroop hypogonadisme, verstandelijke handicap en skeletafwijking bij man
syndroom van Sohval-Soffer
| | Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome | | Sohval Soffer syndrome
| | This syndrome has characteristics of hypergonadotropic hypogonadism, intellectual deficit, and congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus. It has been described in two brothers. Testicular biopsy revealed germinal aplasia and complete seminiferous tubular fibrosis. |
| | Id | 722459008 | | 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 |
|
| SNOMED CT to Orphanet simple map | 2234 |
| 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 |
|
|
