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1153430004: Partial deletion of long arm of chromosome 14 (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
4564290013 Partial deletion of chromosome 14q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4564291012 Partial deletion of long arm of chromosome 14 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4564292017 Partial deletion of long arm of chromosome 14 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core


7 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Partial deletion of long arm of chromosome 14 (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Partial deletion of long arm of chromosome 14 (disorder) est un(e) (attribut) Deletion of part of chromosome 14 (disorder) true Inferred relationship Some
Partial deletion of long arm of chromosome 14 (disorder) localisation d'une constatation (attribut) Long arm of chromosome (cell structure) true Inferred relationship Some 1
Partial deletion of long arm of chromosome 14 (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Partial deletion of long arm of chromosome 14 (disorder) morphologie associée (attribut) Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
Partial deletion of long arm of chromosome 14 (disorder) localisation d'une constatation (attribut) Chromosome pair 14 true Inferred relationship Some 2
Partial deletion of long arm of chromosome 14 (disorder) morphologie associée (attribut) Partial monosomy (morphologic abnormality) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
syndrome de microdélétion 14q22q23 est un(e) (attribut) True Partial deletion of long arm of chromosome 14 (disorder) Inferred relationship Some
14q11.2 microdeletion syndrome (disorder) est un(e) (attribut) True Partial deletion of long arm of chromosome 14 (disorder) Inferred relationship Some
14q24.1q24.3 microdeletion syndrome est un(e) (attribut) True Partial deletion of long arm of chromosome 14 (disorder) Inferred relationship Some
14q12 microdeletion syndrome (disorder) est un(e) (attribut) True Partial deletion of long arm of chromosome 14 (disorder) Inferred relationship Some
14q32 deletion syndrome est un(e) (attribut) True Partial deletion of long arm of chromosome 14 (disorder) Inferred relationship Some
Distal monosomy 14q syndrome (disorder) est un(e) (attribut) True Partial deletion of long arm of chromosome 14 (disorder) Inferred relationship Some
Paternal 14q32.2 microdeletion (disorder) est un(e) (attribut) True Partial deletion of long arm of chromosome 14 (disorder) Inferred relationship Some

This concept is not in any reference sets

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