766721001: Paternal uniparental disomy of chromosome 7 (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Uniparental disomy\Uniparental disomy of paternal origin\Paternal uniparental disomy of chromosome 7
• \Anomaly of chromosome pair 7\Paternal uniparental disomy of chromosome 7
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Uniparental disomy\Uniparental disomy of paternal origin\Paternal uniparental disomy of chromosome 7
• \Anomaly of chromosome pair 7\Paternal uniparental disomy of chromosome 7

Status: current, Defined. Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3662388019	Paternal uniparental disomy of chromosome 7	en	Synonym	Active	Case insensitive	SNOMED CT core
3662389010	Paternal uniparental disomy of chromosome 7 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3662390018	Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (for example cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss).	en	Definition	Active	Case sensitive	SNOMED CT core
3662391019	Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (for example cystic fibrosis, congenital chloride diarrhoea, sensorineural hearing loss).	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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