Autosomal recessive hereditary disorder
Autosomal recessive hereditary disorder
Congenital cataract
Congenital cataract
Congenital hypergonadotropic hypogonadism
Developmental hereditary disorder
Hereditary disorder of endocrine system
Hereditary disorder of endocrine system
Hereditary disorder of the visual system
Hereditary disorder of the visual system
Primary hypogonadism
Reproductive system hereditary disorder
Reproductive system hereditary disorder
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Hypergonadotropic hypogonadism with cataract syndrome (disorder)
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.
syndroom van hypergonadotroop hypogonadisme en cataract
syndroom van cataract en testiculair falen
Id721233005
StatusPrimitive
Finding siteGonadal endocrine structure
OccurrenceCongenital
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyOpacity
Finding siteLens clear
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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