Intellectual disability	Multiple malformation syndrome with facial defects as major feature	Partial deletion of long arm of chromosome 14
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14q24.1q24.3 microdeletion syndrome (disorder)
	14q24.1q24.3 microdeletion syndrome
	Monosomy 14q24.1q24.3
	A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.
	14q24.1q24.3-microdeletiesyndroom
	monosomie 14q24.1q24.3 14q24.1-q24.3-microdeletiesyndroom monosomie 14q24.1-q24.3

Id	773494008
Status	Primitive

Associated morphology	Partial monosomy
Finding site	Long arm of chromosome
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Partial monosomy
Finding site	Chromosome pair 14
Occurrence	Congenital
Pathological process	Pathological developmental process

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	Q93.5
Rule	TRUE
Advice	ALWAYS Q93.5
Correlation	SNOMED CT source code to target map code correlation not specified