8q partial monosomy syndrome	Multiple malformation syndrome with facial defects as major feature
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8q22.1 microdeletion syndrome (disorder)
	8q22.1 microdeletion syndrome
	Nablus mask-like facial syndrome Monosomy 8q22.1
	The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.

Id	719664004
Status	Primitive

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

Associated morphology	Partial monosomy
Finding site	Chromosome pair 8
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Deletion of long arm
Finding site	Chromosome pair 8
Occurrence	Congenital
Pathological process	Pathological developmental process

SNOMED CT to Orphanet simple map

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q93.5
Term	Overige deleties van deel van chromosoom

SNOMED CT to ICD-10 extended map

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