11p partial monosomy syndrome	Congenital exostosis	Multiple system malformation syndrome
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Chromosome 11p11.2 deletion syndrome (disorder)
	Potocki-Shaffer syndrome
	P11pDS - proximal 11p deletion syndrome Proximal 11p deletion syndrome Chromosome 11p11.2 deletion syndrome
	Potocki-Shaffer syndrome has characteristics of multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).
	chromosoom 11p11.2-deletiesyndroom
	syndroom van Potocki-Shaffer

Id	702346005
Status	Primitive

Associated morphology	Partial monosomy
Finding site	Chromosome pair 11
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	External hyperostosis
Finding site	Bone structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Deletion of short arm
Finding site	Chromosome pair 11
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