autosomaal recessieve hereditaire aandoening	congenitaal cataract	congenitaal hypergonadotroop hypogonadisme	hereditaire aandoening van endocrien systeem	hereditaire aandoening van visueel systeem	hereditaire aandoening van voortplantingsstelsel	hereditaire ontwikkelingsstoornis
\|	\|	\|	\|	\|	\|	\|

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
	A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence.

Id	721233005
Status	Primitive

Finding site	endocriene structuur van gonade
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	troebeling
Finding site	structuur van lens cristallina
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	E29.1
Term	Hypofunctie van testis

Target	Q12.0
Term	Congenitaal cataract

SNOMED CT to Orphanet simple map

2410

SNOMED CT to ICD-10 extended map

Target	E29.1
Rule	TRUE
Advice	ALWAYS E29.1 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q12.0
Rule	TRUE
Advice	ALWAYS Q12.0
Correlation	SNOMED CT source code to target map code correlation not specified