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

1003405008: Maternal uniparental disomy of chromosome 14 (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
4168175018 Maternal uniparental disomy of chromosome 14 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4168176017 Maternal uniparental disomy of chromosome 14 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4168175018 Maternal uniparental disomy of chromosome 14 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4168176017 Maternal uniparental disomy of chromosome 14 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6337291000241113 disomie uniparentale maternelle du chromosome 14 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6337301000241112 disomie uniparentale chez la mère du chromosome 14 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6337291000241113 disomie uniparentale maternelle du chromosome 14 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6337301000241112 disomie uniparentale chez la mère du chromosome 14 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Maternal uniparental disomy of chromosome 14 Is a Anomaly of chromosome pair 14 true Inferred relationship Existential restriction modifier (core metadata concept)
Maternal uniparental disomy of chromosome 14 Is a Uniparental disomy of maternal origin (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Maternal uniparental disomy of chromosome 14 Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Maternal uniparental disomy of chromosome 14 Finding site Chromosome pair 14 (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Maternal uniparental disomy of chromosome 14 Associated morphology Alteration of chromosome structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start