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70452003: Anomaly of chromosome pair 22 (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1020951000172115 anomalie du chromosome 22 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
117038011 Anomaly of chromosome pair 22 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
459371000241119 anomalie du chromosome 22 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
810510017 Anomaly of chromosome pair 22 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


17 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
anomalie du chromosome 22 est un(e) (attribut) Anomaly of chromosome pair true Inferred relationship Some
anomalie du chromosome 22 morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
anomalie du chromosome 22 est un(e) (attribut) Anomaly of sex chromosome false Inferred relationship Some
anomalie du chromosome 22 localisation d'une constatation (attribut) Chromosome pair 22 (cell structure) false Inferred relationship Some 1
anomalie du chromosome 22 morphologie associée (attribut) Congenital anomaly false Inferred relationship Some
anomalie du chromosome 22 survenue (attribut) congénital true Inferred relationship Some 1
anomalie du chromosome 22 morphologie associée (attribut) Cellular AND/OR subcellular abnormality true Inferred relationship Some 1
anomalie du chromosome 22 localisation d'une constatation (attribut) Chromosome pair 22 (cell structure) true Inferred relationship Some 1
anomalie du chromosome 22 localisation d'une constatation (attribut) Chromosome pair 22 (cell structure) false Inferred relationship Some 1
anomalie du chromosome 22 morphologie associée (attribut) Alteration of chromosome structure false Inferred relationship Some
anomalie du chromosome 22 localisation d'une constatation (attribut) Sex chromosome (cell structure) false Inferred relationship Some
anomalie du chromosome 22 survenue (attribut) congénital false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Maternal uniparental disomy of chromosome 22 (disorder) est un(e) (attribut) True anomalie du chromosome 22 Inferred relationship Some
Monosomy 22 syndrome (disorder) est un(e) (attribut) True anomalie du chromosome 22 Inferred relationship Some
Ring chromosome 22 syndrome est un(e) (attribut) True anomalie du chromosome 22 Inferred relationship Some
22q partial monosomy (disorder) est un(e) (attribut) False anomalie du chromosome 22 Inferred relationship Some
Cat eye syndrome est un(e) (attribut) False anomalie du chromosome 22 Inferred relationship Some
22q partial trisomy (disorder) est un(e) (attribut) False anomalie du chromosome 22 Inferred relationship Some
Complete trisomy 22 syndrome est un(e) (attribut) False anomalie du chromosome 22 Inferred relationship Some
22q13.3 deletion syndrome est un(e) (attribut) False anomalie du chromosome 22 Inferred relationship Some
22q11.2 duplication syndrome (disorder) est un(e) (attribut) False anomalie du chromosome 22 Inferred relationship Some
Deletion of part of chromosome 22 (disorder) est un(e) (attribut) True anomalie du chromosome 22 Inferred relationship Some
Partial trisomy of chromosome 22 est un(e) (attribut) False anomalie du chromosome 22 Inferred relationship Some
Trisomy 22 est un(e) (attribut) True anomalie du chromosome 22 Inferred relationship Some

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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