Autosomal dominant hereditary disorder	Developmental hereditary disorder	Intellectual disability	Multiple malformation syndrome with facial defects as major feature
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Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder)
	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.
	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

Id	782736007
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Face structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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