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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.
Id733113002
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van retina
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE23.0
TermHypopituïtarisme
TargetH35.5
TermHereditaire retinadystrofie
SNOMED CT to Orphanet simple map2235
SNOMED CT to ICD-10 extended map
TargetE23.0
RuleTRUE
AdviceALWAYS E23.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH35.5
RuleTRUE
AdviceALWAYS H35.5
CorrelationSNOMED CT source code to target map code correlation not specified