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7586009: 14q 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
4564198014 14q partial trisomy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4564203018 14q partial trisomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
13542016 14q partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
13542016 14q partial trisomy syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
13542016 14q partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
816517013 14q partial trisomy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
816517013 14q partial trisomy syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
816517013 14q partial trisomy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
816517013 14q partial trisomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4564198014 14q partial trisomy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4564203018 14q partial trisomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4413931000241117 trisomie partielle 14q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4413931000241117 trisomie partielle 14q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
14q partial trisomy (disorder) Is a Anomaly of chromosome pair 14 false Inferred relationship Existential restriction modifier (core metadata concept)
14q partial trisomy (disorder) Is a Trisomy and partial trisomy of autosome false Inferred relationship Existential restriction modifier (core metadata concept)
14q partial trisomy (disorder) Finding site Chromosome pair 14 (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
14q partial trisomy (disorder) Finding site Sex chromosome false Inferred relationship Existential restriction modifier (core metadata concept)
14q partial trisomy (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
14q partial trisomy (disorder) Associated morphology Alteration of chromosome structure false Inferred relationship Existential restriction modifier (core metadata concept)
14q partial trisomy (disorder) Associated morphology Trisomy (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept)
14q partial trisomy (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
14q partial trisomy (disorder) Finding site Chromosome pair 14 (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
14q partial trisomy (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
14q partial trisomy (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
14q partial trisomy (disorder) Finding site Chromosome pair 14 (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
14q partial trisomy (disorder) Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 1
14q partial trisomy (disorder) Is a Partial trisomy of chromosome 14 true Inferred relationship Existential restriction modifier (core metadata concept)
14q partial trisomy (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
14q partial trisomy (disorder) Finding site Long arm of chromosome (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
14q 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
14q partial distal trisomy syndrome (disorder) Is a True 14q partial trisomy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
14q partial proximal trisomy syndrome (disorder) Is a True 14q partial trisomy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
14q11.2 microduplication syndrome (disorder) Is a True 14q partial trisomy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
14q32 duplication syndrome (disorder) Is a True 14q partial trisomy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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