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

82751009: 7p partial trisomy (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
4555207010 7p partial trisomy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555208017 7p partial trisomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
137279012 7p partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
137279012 7p partial trisomy syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
137279012 7p partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
824240010 7p partial trisomy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
824240010 7p partial trisomy syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
824240010 7p partial trisomy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
824240010 7p partial trisomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555207010 7p partial trisomy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555208017 7p partial trisomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4660151000241115 trisomie partielle 7p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4660151000241115 trisomie partielle 7p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


3 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
7p partial trisomy (disorder) Is a Trisomy and partial trisomy of autosome false Inferred relationship Existential restriction modifier (core metadata concept)
7p partial trisomy (disorder) Is a Anomaly of chromosome pair 7 false Inferred relationship Existential restriction modifier (core metadata concept)
7p partial trisomy (disorder) Finding site Sex chromosome false Inferred relationship Existential restriction modifier (core metadata concept)
7p partial trisomy (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
7p partial trisomy (disorder) Finding site Chromosome pair 7 false Inferred relationship Existential restriction modifier (core metadata concept) 1
7p partial trisomy (disorder) Associated morphology Trisomy (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept)
7p partial trisomy (disorder) Associated morphology Alteration of chromosome structure false Inferred relationship Existential restriction modifier (core metadata concept)
7p partial trisomy (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
7p partial trisomy (disorder) Finding site Chromosome pair 7 false Inferred relationship Existential restriction modifier (core metadata concept) 1
7p partial trisomy (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
7p partial trisomy (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
7p partial trisomy (disorder) Finding site Chromosome pair 7 true Inferred relationship Existential restriction modifier (core metadata concept) 1
7p partial trisomy (disorder) Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 1
7p partial trisomy (disorder) Is a Partial trisomy of chromosome 7 true Inferred relationship Existential restriction modifier (core metadata concept)
7p partial trisomy (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
7p partial trisomy (disorder) Finding site Short arm of chromosome true Inferred relationship Existential restriction modifier (core metadata concept) 2
7p partial trisomy (disorder) Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 2

Inbound Relationships Type Active Source Characteristic Refinability Group
Distal trisomy 7p syndrome Is a True 7p partial trisomy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
7p22.1 microduplication syndrome (disorder) Is a True 7p partial trisomy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Proximal duplication of short arm of chromosome 7 Is a True 7p partial trisomy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start