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726398002: Deletion of part of chromosome 21 (disorder)


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

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 SNOMED CT core module
3463895015 Deletion of part of chromosome 21 en Synonym Active Entire term case insensitive SNOMED CT core module


5 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deletion of part of chromosome 21 Is a Anomaly of chromosome pair 21 true Inferred relationship Existential restriction modifier
Deletion of part of chromosome 21 Is a Deletion of part of autosome true Inferred relationship Existential restriction modifier
Deletion of part of chromosome 21 Associated morphology Partial monosomy true Inferred relationship Existential restriction modifier 1
Deletion of part of chromosome 21 Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Deletion of part of chromosome 21 Finding site Chromosome pair 21 true Inferred relationship Existential restriction modifier 1

Inbound Relationships Type Active Source Characteristic Refinability Group
21q partial monosomy syndrome Is a True Deletion of part of chromosome 21 Inferred relationship Existential restriction modifier
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion Is a True Deletion of part of chromosome 21 Inferred relationship Existential restriction modifier
21q22.11q22.12 microdeletion syndrome Is a False Deletion of part of chromosome 21 Inferred relationship Existential restriction modifier
Distal deletion of chromosome 21 Is a True Deletion of part of chromosome 21 Inferred relationship Existential restriction modifier
Proximal deletion of chromosome 21 Is a True Deletion of part of chromosome 21 Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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