malformatiesyndroom met betrokkenheid van meerdere systemen	syndroom van partiële monosomie 1q
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distale monosomie 1q (aandoening)
	distale monosomie 1q
	distale monosomie van lange arm van chromosoom 1
	Distal monosomy 1q syndrome
	Monosomy 1qter Distal deletion 1q Distal monosomy 1q Telomeric deletion 1q
	A chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-esophageal and urogenital anomalies.

Id	717633007
Status	Primitive

Associated morphology	partiële monosomie
Finding site	structuur van lange arm van chromosoom
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	partiële monosomie
Finding site	chromosomenpaar 1
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

36367

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