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726398002: Deletion of part of chromosome 21 (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3463894016 Deletion of part of chromosome 21 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3463895015 Deletion of part of chromosome 21 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
10639301000172110 délétion d'une partie du chromosome 21 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
10639311000172113 délétion partielle du chromosome 21 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4688041000172114 partiële deletie van chromosoom 21 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4688051000172111 deletie van gedeelte van chromosoom 21 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deletion of part of chromosome 21 (disorder) Is a Anomaly of chromosome pair 21 true Inferred relationship Some
Deletion of part of chromosome 21 (disorder) Is a Deletion of part of autosome true Inferred relationship Some
Deletion of part of chromosome 21 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
Deletion of part of chromosome 21 (disorder) Occurrence Congenital true Inferred relationship Some 1
Deletion of part of chromosome 21 (disorder) Finding site Chromosome pair 21 true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
21q partial monosomy syndrome Is a True Deletion of part of chromosome 21 (disorder) Inferred relationship Some
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (disorder) Is a True Deletion of part of chromosome 21 (disorder) Inferred relationship Some
21q22.11q22.12 microdeletion syndrome Is a False Deletion of part of chromosome 21 (disorder) Inferred relationship Some
Distal deletion of chromosome 21 Is a True Deletion of part of chromosome 21 (disorder) Inferred relationship Some
Proximal deletion of chromosome 21 (disorder) Is a True Deletion of part of chromosome 21 (disorder) Inferred relationship Some

This concept is not in any reference sets

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