syndroom van partiële trisomie 6p

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syndroom van distale trisomie 6p (aandoening)
	syndroom van distale trisomie 6p
	distale trisomie van korte arm van chromosoom 6 telomerische duplicatie 6p distale trisomie 6p
	Distal trisomy 6p syndrome
	Telomeric duplication 6p Distal duplication 6p
	Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay.

Id	722430008
Status	Primitive

Associated morphology	partiële trisomie
Finding site	chromosomenpaar 6
Occurrence	congenitaal

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q92.3
Term	Trisomie van kleinste deel chromosoom

SNOMED CT to Orphanet simple map

1745

SNOMED CT to ICD-10 extended map

Target	Q92.3
Rule	TRUE
Advice	ALWAYS Q92.3
Correlation	SNOMED CT source code to target map code correlation not specified