1p partial monosomy	Developmental delay	Multiple malformation syndrome with facial defects as major feature	Short stature disorder
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1p35.2 microdeletion syndrome (disorder)
	1p35.2 microdeletion syndrome
	Monosomy 1p35.2
	A very rare chromosomal anomaly with characteristics of intrauterine and postnatal growth retardation, short stature, developmental delay, learning difficulties, hearing loss, hypermetropia and a recognisable facial dysmorphism including prominent forehead, long myopathic facies, fine eyebrows, small mouth and micrognathia.

Id	1228844002
Status	Primitive

Has interpretation	Below reference range
Interprets	Body height measure

Associated morphology	Partial monosomy
Finding site	Short arm of chromosome
Occurrence	Congenital

Associated morphology	Partial monosomy
Finding site	Chromosome pair 1
Occurrence	Congenital

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

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