deletie van gedeelte van chromosoom 11

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distale partiële deletie van lange arm van chromosoom 11 (aandoening)
	distale partiële deletie van lange arm van chromosoom 11
	11qDS syndroom van Jacobsen
	syndroom van Jacobsen
	Jacobsen syndrome
	Distal deletion 11q Distal monosomy 11q Distal partial deletion of long arm of chromosome 11
	A rare genetic disorder caused by deletions in the long arm of chromosome 11 (11q) and mainly characterized by craniofacial dysmorphism, congenital heart disease, intellectual disability, Paris Trousseau bleeding disorder, structural kidney defects and immunodeficiency.

Id	715438008
Status	Primitive

Associated morphology	deletie van lange arm
Finding site	chromosomenpaar 11
Occurrence	congenitaal

Associated morphology	partiële monosomie
Finding site	chromosomenpaar 11
Occurrence	congenitaal

SNOMED CT to Orphanet simple map

DHD Diagnosis thesaurus reference set

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

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q93.5
Term	Overige deleties van deel van chromosoom