congenitale anomalie van chromosomenpaar 7
paternale uniparentale disomie
||
paternale uniparentale disomie van chromosoom 7 (aandoening)
paternale uniparentale disomie van chromosoom 7
Paternal uniparental disomy of chromosome 7
Paternal uniparental disomy of chromosome 7 is a uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss).
Id766721001
StatusDefined
Associated morphologyverandering van chromosoomstructuur
Finding sitechromosomenpaar 7
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ99.8
TermOverige gespecificeerde chromosoomafwijkingen
SNOMED CT to Orphanet simple map96192
SNOMED CT to ICD-10 extended map
TargetQ99.8
RuleTRUE
AdviceALWAYS Q99.8
CorrelationSNOMED CT source code to target map code correlation not specified