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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.
Id721842008
StatusPrimitive
Associated morphologyafwezigheid
Finding sitestructuur van pilus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE23.0
TermHypopituïtarisme
TargetL65.9
TermHaarverlies zonder littekenvorming, niet gespecificeerd
SNOMED CT to Orphanet simple map2230
SNOMED CT to ICD-10 extended map
TargetE23.0
RuleTRUE
AdviceALWAYS E23.0
CorrelationSNOMED CT source code to target map code correlation not specified
TargetL65.9
RuleTRUE
AdviceALWAYS L65.9
CorrelationSNOMED CT source code to target map code correlation not specified