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726398002: Deletion of part of chromosome 21 (disorder)


Status: current, Defined. 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 Case insensitive SNOMED CT core
3463895015 Deletion of part of chromosome 21 en Synonym Active Case insensitive SNOMED CT core


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 Some
Deletion of part of chromosome 21 Is a Deletion of part of autosome true Inferred relationship Some
Deletion of part of chromosome 21 Associated morphology Partial monosomy true Inferred relationship Some 1
Deletion of part of chromosome 21 Occurrence Congenital true Inferred relationship Some 1
Deletion of part of chromosome 21 Finding site Chromosome pair 21 true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion Is a True Deletion of part of chromosome 21 Inferred relationship Some
21q22.11q22.12 microdeletion syndrome Is a False Deletion of part of chromosome 21 Inferred relationship Some
Distal deletion of chromosome 21 Is a True Deletion of part of chromosome 21 Inferred relationship Some
Proximal deletion of chromosome 21 Is a True Deletion of part of chromosome 21 Inferred relationship Some
21q partial monosomy syndrome Is a True Deletion of part of chromosome 21 Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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