hereditaire ontwikkelingsstoornis	malformatiesyndroom met betrokkenheid van meerdere systemen	verstandelijke beperking	X-gebonden hereditaire recessieve aandoening
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X-gebonden verstandelijke beperking Stocco-Dos Santos-type (aandoening)
	X-gebonden verstandelijke beperking Stocco-Dos Santos-type
	X-gebonden verstandelijke handicap Stocco-Dos Santos-type X-gebonden mentale retardatie Stocco-Dos Santos-type
	X-linked intellectual disability Stocco Dos Santos type
	This syndrome is characterized by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behavior and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localized to the Xp11.2 region.

Id	718910006
Status	Primitive

Associated morphology	morfologische afwijking
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

85288

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