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74769007: Anomaly of chromosome pair 1 (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
124173018 Anomaly of chromosome pair 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
464041000241117 anomalie du chromosome 1 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
815304016 Anomaly of chromosome pair 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
994641000172118 anomalie du chromosome 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)


33 descendants. Search Descendants:

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group
Mosaic trisomy 1 syndrome est un(e) (attribut) True Anomaly of chromosome pair 1 Inferred relationship Some
Distal trisomy 1p est un(e) (attribut) False Anomaly of chromosome pair 1 Inferred relationship Some
Distal trisomy 1q (disorder) est un(e) (attribut) False Anomaly of chromosome pair 1 Inferred relationship Some
1q partial monosomy est un(e) (attribut) False Anomaly of chromosome pair 1 Inferred relationship Some
1p partial monosomy est un(e) (attribut) False Anomaly of chromosome pair 1 Inferred relationship Some
syndrome du chromosome 1 en anneau (trouble) est un(e) (attribut) True Anomaly of chromosome pair 1 Inferred relationship Some
1q partial trisomy syndrome (disorder) est un(e) (attribut) False Anomaly of chromosome pair 1 Inferred relationship Some
1q21.1 microdeletion est un(e) (attribut) False Anomaly of chromosome pair 1 Inferred relationship Some
Chromosome 1p36 deletion syndrome (disorder) est un(e) (attribut) False Anomaly of chromosome pair 1 Inferred relationship Some
1q41q42 microdeletion syndrome (disorder) est un(e) (attribut) False Anomaly of chromosome pair 1 Inferred relationship Some
Distal monosomy 1q syndrome est un(e) (attribut) False Anomaly of chromosome pair 1 Inferred relationship Some
Partial trisomy of chromosome 1 est un(e) (attribut) True Anomaly of chromosome pair 1 Inferred relationship Some
Deletion of part of chromosome 1 (disorder) est un(e) (attribut) True Anomaly of chromosome pair 1 Inferred relationship Some
Paternal uniparental disomy of chromosome 1 (disorder) est un(e) (attribut) True Anomaly of chromosome pair 1 Inferred relationship Some
Maternal uniparental disomy of chromosome 1 (disorder) est un(e) (attribut) True Anomaly of chromosome pair 1 Inferred relationship Some

This concept is not in any reference sets

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