congenitale afwijking	syndroom van partiële monosomie 7p
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distale monosomie 7p (aandoening)
	distale monosomie 7p
	distale monosomie van korte arm van chromosoom 7
	Distal monosomy 7p syndrome
	Telomeric deletion 7p Distal deletion 7p Distal monosomy 7p
	A partial autosomal monosomy with characteristics of developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies and specific craniofacial features commonly including craniosynostosis.

Id	782674007
Status	Primitive

Associated morphology	partiële monosomie
Finding site	chromosomenpaar 7
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	partiële monosomie
Finding site	structuur van korte arm van chromosoom
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

96126

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