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syndroom van hypergonadotroop hypogonadisme en cataract (aandoening)
syndroom van hypergonadotroop hypogonadisme en cataract
syndroom van cataract en testiculair falen
Hypergonadotropic hypogonadism with cataract syndrome
Lubinsky syndrome
Cataract and testicular failure syndrome
Syndrome with the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family. An autosomal recessive mode of transmission appears likely.
Id721233005
StatusPrimitive
Associated morphologytroebeling
Finding sitestructuur van lens cristallina
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE29.1
TermHypofunctie van testis
TargetQ12.0
TermCongenitaal cataract
SNOMED CT to Orphanet simple map2410
SNOMED CT to ICD-10 extended map
TargetE29.1
RuleTRUE
AdviceALWAYS E29.1
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ12.0
RuleTRUE
AdviceALWAYS Q12.0
CorrelationSNOMED CT source code to target map code correlation not specified