autosomaal dominante hereditaire aandoening	hereditaire ontwikkelingsstoornis	polymalformatief syndroom met defect van aangezicht als voornaamst kenmerk	verstandelijke beperking
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'switch-insensitive 3 transcription regulator family member A'-gerelateerd syndroom van verstandelijke beperking (aandoening)
	SIN3A-gerelateerd syndroom van verstandelijke beperking
	SIN3A-gerelateerd syndroom van verstandelijke handicap syndroom van Witteveen-Kolk 'switch-insensitive 3 transcription regulator family member A'-gerelateerd syndroom van verstandelijke beperking Witteveen-Kolk-syndroom WITKOS SIN3A-gerelateerd syndroom van mentale retardatie
	Witteveen Kolk syndrome
	SIN3A-related intellectual disability syndrome SIN3A (Switch-insensitive 3 transcription regulator family member A)-related intellectual disability syndrome WITKOS - Witteveen Kolk syndrome
	A rare genetic neurodevelopmental syndrome characterized by mild intellectual disability, developmental delay, dysmorphic facial features, growth- and feeding problems, hypotonia, epilepsy, behavioral problems and a variety of congenital abnormalities.

Id	1187122000
Status	Primitive

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	F83
Term	Gemengde specifieke ontwikkelingsstoornissen

SNOMED CT to Orphanet simple map

500163

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