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50992006: 22q 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
84978016 22q partial trisomy syndrome en Synonym (core metadata concept) Inactive Entire term case insensitive (core metadata concept) SNOMED CT core
788842014 22q partial trisomy syndrome (disorder) en Fully specified name Inactive Entire term case insensitive (core metadata concept) SNOMED CT core
4555269010 22q partial trisomy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555270011 22q partial trisomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4556371000241110 trisomie partielle 22q 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
22q partial trisomy (disorder) Is a Anomaly of chromosome pair 22 false Inferred relationship Some
22q partial trisomy (disorder) Is a Trisomy and partial trisomy of autosome false Inferred relationship Some
22q partial trisomy (disorder) Finding site Sex chromosome false Inferred relationship Some
22q partial trisomy (disorder) Occurrence Congenital false Inferred relationship Some
22q partial trisomy (disorder) Associated morphology Trisomy false Inferred relationship Some
22q partial trisomy (disorder) Associated morphology Alteration of chromosome structure false Inferred relationship Some
22q partial trisomy (disorder) Finding site Chromosome pair 22 false Inferred relationship Some 1
22q partial trisomy (disorder) Associated morphology anomalie congénitale false Inferred relationship Some 1
22q partial trisomy (disorder) Associated morphology anomalie congénitale false Inferred relationship Some
22q partial trisomy (disorder) Finding site Chromosome pair 22 false Inferred relationship Some 1
22q partial trisomy (disorder) Occurrence Congenital true Inferred relationship Some 1
22q partial trisomy (disorder) Finding site Chromosome pair 22 true Inferred relationship Some 1
22q partial trisomy (disorder) Associated morphology Partial trisomy true Inferred relationship Some 1
22q partial trisomy (disorder) Is a Partial trisomy of chromosome 22 true Inferred relationship Some
22q partial trisomy (disorder) Occurrence Congenital true Inferred relationship Some 2
22q partial trisomy (disorder) Finding site Long arm of chromosome true Inferred relationship Some 2
22q partial trisomy (disorder) Associated morphology Partial trisomy true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
22q11.2 duplication syndrome (disorder) Is a True 22q partial trisomy (disorder) Inferred relationship Some
Distal trisomy 22q syndrome (disorder) Is a True 22q partial trisomy (disorder) Inferred relationship Some
Distal 22q11.2 microduplication syndrome (disorder) Is a True 22q partial trisomy (disorder) Inferred relationship Some

Reference Sets

GB English

US English

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