autosomaal dominante hereditaire aandoening	hereditaire ontwikkelingsstoornis	polymalformatief syndroom met defect van aangezicht als voornaamst kenmerk	verstandelijke beperking
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syndroom van verstandelijke beperking en faciale dysmorfie door 'SET-domain containing protein 5'-haplo-insufficiëntie (aandoening)
	syndroom van verstandelijke handicap en congenitale afwijking van aangezicht door SETD5-haplo-insufficiëntie
	syndroom van mentale retardatie en faciale dysmorfie door SETD5-haplo-insufficiëntie syndroom van verstandelijke beperking en faciale dysmorfie door 'SET-domain containing protein 5'-haplo-insufficiëntie
	Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency
	Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency
	A rare syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated. Caused by heterozygous mutation in the SETD5 gene on chromosome 3p25.

Id	782736007
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	Q87.0
Term	Congenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan

SNOMED CT to Orphanet simple map

404440

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