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770562000: Maternal uniparental disomy of chromosome 1 (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3701284010 Maternal uniparental disomy of chromosome 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3701285011 Maternal uniparental disomy of chromosome 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404808012 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Maternal uniparental disomy of chromosome 1 (disorder) Is a Anomaly of chromosome pair 1 true Inferred relationship Some
Maternal uniparental disomy of chromosome 1 (disorder) Finding site Chromosome pair 1 true Inferred relationship Some 1
Maternal uniparental disomy of chromosome 1 (disorder) Occurrence Congenital true Inferred relationship Some 1
Maternal uniparental disomy of chromosome 1 (disorder) Associated morphology Alteration of chromosome structure true Inferred relationship Some 1
Maternal uniparental disomy of chromosome 1 (disorder) Is a Uniparental disomy of maternal origin (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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