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890124000: 5q22.2 deletion syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4011213019 5q22.2 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4011214013 5q22.2 deletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
5q22.2 deletion syndrome est un(e) (attribut) Deletion of part of long arm of chromosome 5 (disorder) true Inferred relationship Some
5q22.2 deletion syndrome est un(e) (attribut) Congenital malformation false Inferred relationship Some
5q22.2 deletion syndrome localisation d'une constatation (attribut) Chromosome pair 5 (cell structure) true Inferred relationship Some 1
5q22.2 deletion syndrome morphologie associée (attribut) Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
5q22.2 deletion syndrome survenue (attribut) congénital true Inferred relationship Some 1
5q22.2 deletion syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
5q22.2 deletion syndrome morphologie associée (attribut) Deletion of long arm false Inferred relationship Some 2
5q22.2 deletion syndrome localisation d'une constatation (attribut) Chromosome pair 5 (cell structure) false Inferred relationship Some 2
5q22.2 deletion syndrome survenue (attribut) congénital true Inferred relationship Some 2
5q22.2 deletion syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
5q22.2 deletion syndrome localisation d'une constatation (attribut) Long arm of chromosome (cell structure) true Inferred relationship Some 2
5q22.2 deletion syndrome morphologie associée (attribut) Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
5q22.2 deletion syndrome est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Familial adenomatous polyposis due to 5q22.2 microdeletion (disorder) Due to True 5q22.2 deletion syndrome Inferred relationship Some 2

This concept is not in any reference sets

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