Congenital malformation	Deletion of part of long arm of chromosome 17	Developmental hereditary disorder	Neurofibromatosis type 1
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17q11 deletion syndrome (disorder)
	17q11 deletion syndrome
	Monosomy 17q11 Neurofibromatosis type 1 microdeletion syndrome Chromosome 17q11.2 deletion syndrome
	17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.
	17q11-deletiesyndroom
	17q11DS

Id	880093002
Status	Primitive

Associated morphology	Partial monosomy
Finding site	Chromosome pair 17
Occurrence	Congenital
Pathological process	Pathological developmental process

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

Associated morphology	Neurofibromatosis
Finding site	Structure of nervous system
Occurrence	Congenital

Associated morphology	Neurofibromatosis
Finding site	Skin structure
Occurrence	Congenital

ICD-10 complex map reference set

Target	Q85.0
Rule	TRUE
Advice	ALWAYS Q85.0
Correlation	SNOMED CT source code to target map code correlation not specified