hereditaire ontwikkelingsstoornis	malformatiesyndroom met betrokkenheid van meerdere systemen	verstandelijke beperking	X-gebonden hereditaire recessieve aandoening
\|	\|	\|	\|

syndromale X-gebonden verstandelijke beperking door 'jumonji at-rich interactive domain 1c'-mutatie (aandoening)
	syndromale X-gebonden verstandelijke handicap door JARID1C-mutatie
	syndromale X-gebonden verstandelijke beperking door 'jumonji at-rich interactive domain 1c'-mutatie syndromale X-gebonden mentale retardatie door 'jumonji at-rich interactive domain 1c'-mutatie
	Syndromic X-linked intellectual disability due to JARID1C mutation
	Syndromic X-linked intellectual disability due to JARID1C (jumonji at-rich interactive domain 1c) mutation Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation
	A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech, and behavioral problems.

Id	719161008
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

85279

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