congenitale exostose	malformatiesyndroom met betrokkenheid van meerdere systemen	syndroom van partiële monosomie 11p
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chromosoom 11p11.2-deletiesyndroom (aandoening)
	chromosoom 11p11.2-deletiesyndroom
	syndroom van Potocki-Shaffer
	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).

Id	702346005
Status	Primitive

Associated morphology	partiële monosomie
Finding site	chromosomenpaar 11
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	exostose
Finding site	botstructuur
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	deletie van korte arm van chromosoom
Finding site	chromosomenpaar 11
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q93.5
Term	Overige deleties van deel van chromosoom

SNOMED CT to Orphanet simple map

52022

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