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766719006: Paternal 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
3662382018 Paternal uniparental disomy of chromosome 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3662383011 Paternal uniparental disomy of chromosome 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404631010 Paternal uniparental disomy of chromosome 1 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3662382018 Paternal uniparental disomy of chromosome 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3662383011 Paternal uniparental disomy of chromosome 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3662384017 Paternal uniparental disomy of chromosome 1 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 the father is a carrier. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404631010 Paternal uniparental disomy of chromosome 1 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3440301001000115 Uniparentale Disomie 1, paternale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
876791000172114 disomie uniparentale d'origine paternelle du chromosome 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
876791000172114 disomie uniparentale d'origine paternelle du chromosome 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3440301001000115 Uniparentale Disomie 1, paternale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Paternal uniparental disomy of chromosome 1 (disorder) Finding site Chromosome pair 1 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Paternal uniparental disomy of chromosome 1 (disorder) Is a Anomaly of chromosome pair 1 true Inferred relationship Existential restriction modifier (core metadata concept)
Paternal uniparental disomy of chromosome 1 (disorder) Associated morphology Alteration of chromosome structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Paternal uniparental disomy of chromosome 1 (disorder) Is a Uniparental disomy of paternal origin (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Paternal uniparental disomy of chromosome 1 (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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