FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

766720000: Paternal uniparental disomy of chromosome 21 (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
3662385016 Paternal uniparental disomy of chromosome 21 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3662386015 Paternal uniparental disomy of chromosome 21 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404632015 Paternal uniparental disomy of chromosome 21 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
3662385016 Paternal uniparental disomy of chromosome 21 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3662386015 Paternal uniparental disomy of chromosome 21 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3662387012 Paternal uniparental disomy of chromosome 21 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
5404632015 Paternal uniparental disomy of chromosome 21 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
3439191001000118 Uniparentale Disomie 21, paternale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
933161000172119 disomie uniparentale paternelle du chromosome 21 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
933161000172119 disomie uniparentale paternelle du chromosome 21 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3439191001000118 Uniparentale Disomie 21, 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 21 Finding site Chromosome pair 21 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Paternal uniparental disomy of chromosome 21 Associated morphology Alteration of chromosome structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Paternal uniparental disomy of chromosome 21 Is a Uniparental disomy of paternal origin (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Paternal uniparental disomy of chromosome 21 Is a Anomaly of chromosome pair 21 true Inferred relationship Existential restriction modifier (core metadata concept)
Paternal uniparental disomy of chromosome 21 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)

Back to Start