syndroom van hypogonadotroop hypogonadisme en retinitis pigmentosa (aandoening) | | syndroom van hypogonadotroop hypogonadisme en retinitis pigmentosa | | Hypogonadotropic hypogonadism retinitis pigmentosa syndrome | | Chang Davidson Carlson syndrome
| | This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents. |
| Id | 733113002 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | E23.0 | Term | Hypopituïtarisme |
Target | H35.5 | Term | Hereditaire retinadystrofie |
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SNOMED CT to Orphanet simple map | 2235 |
SNOMED CT to ICD-10 extended map | Target | E23.0 | Rule | TRUE | Advice | ALWAYS E23.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | H35.5 | Rule | TRUE | Advice | ALWAYS H35.5 | Correlation | SNOMED CT source code to target map code correlation not specified |
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