congenitaal hypergonadotroop hypogonadisme	hereditaire aandoening van endocrien systeem	hereditaire aandoening van voortplantingsstelsel	hereditaire ontwikkelingsstoornis	verstandelijke beperking	X-gebonden hereditaire recessieve aandoening
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X-gebonden verstandelijke beperking Van Esch-type (aandoening)
	X-gebonden verstandelijke beperking Van Esch-type
	X-gebonden verstandelijke handicap Van Esch-type X-gebonden mentale retardatie Van Esch-type
	X-linked intellectual disability Van Esch type
	A rare, genetic, syndromic intellectual disability characterized by developmental delay, mild to moderate intellectual disability, low birth weight, moderate to severe short stature, microcephaly and variable hypergonadotropic hypogonadism. Mild facial dysmorphism include upslanted palpebral fissures and prominent nasal bridge.

Id	718914002
Status	Primitive

Finding site	endocriene structuur van gonade
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	Q87.8
Term	Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd

SNOMED CT to Orphanet simple map

163976

SNOMED CT to ICD-10 extended map

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified