congenitale anomalie van chromosoompaar 1	maternale uniparentale disomie
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maternale uniparentale disomie van chromosoom 1 (aandoening)
	maternale uniparentale disomie van chromosoom 1
	UPD(1)mat
	Maternal uniparental disomy of chromosome 1
	Maternal uniparental disomy of chromosome 1 is a uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.

Id	770562000
Status	Defined

Associated morphology	verandering van chromosoomstructuur
Finding site	chromosomenpaar 1
Occurrence	congenitaal

SNOMED CT to Orphanet simple map

DHD Diagnosis thesaurus reference set

SNOMED CT to ICD-10 extended map

Target	Q99.8
Rule	TRUE
Advice	ALWAYS Q99.8
Correlation	SNOMED CT source code to target map code correlation not specified

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q99.8
Term	Overige gespecificeerde chromosoomafwijkingen