Deletion of long arm of chromosome 13	Intellectual disability	Multiple malformation syndrome with facial defects as major feature
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13q12.3 microdeletion syndrome (disorder)
	13q12.3 microdeletion syndrome
	Monosomy 13q12.3
	A rare chromosomal anomaly with characteristics of moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip) and reduced sensitivity to pain.
	13q12.3-microdeletiesyndroom
	monosomie 13q12.3

Id	773547003
Status	Primitive

Associated morphology	Partial monosomy
Finding site	Chromosome pair 13
Occurrence	Congenital
Pathological process	Pathological developmental process

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

Associated morphology	Partial monosomy
Finding site	Long arm of chromosome
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