congenitaal hypergonadotroop hypogonadisme	diabetes mellitus type 1	polymalformatief syndroom met defect van aangezicht als voornaamst kenmerk	verstandelijke beperking
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syndroom van verstandelijke beperking, craniofaciale dysmorfie, hypogonadisme en diabetes mellitus (aandoening)
	syndroom van verstandelijke beperking, craniofaciale dysmorfie, hypogonadisme en diabetes mellitus
	syndroom van verstandelijke beperking, craniofaciale dysmorfie, hypogenitalisme en diabetes mellitus
	Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
	Mental retardation syndrome Belgian type
	This syndrome has characteristics of moderate intellectual deficit, craniofacial dysmorphism, hypergonadotropic hypogonadism, eunuchoid habitus, type 1 diabetes mellitus, and epilepsy. It has been described in four patients (three brothers and their sister). This syndrome is probably transmitted as an autosomal recessive trait.

Id	722454003
Status	Primitive

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

Associated morphology	morfologische afwijking
Finding site	structuur van aangezicht
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Has interpretation	gestoord
Interprets	intellectueel vermogen

Has interpretation	gestoord
Interprets	Adaptation behavior

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q87.0
Term	Congenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan

SNOMED CT to Orphanet simple map

3044

SNOMED CT to ICD-10 extended map

Target	Q87.0
Rule	TRUE
Advice	ALWAYS Q87.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified