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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
124174012 Anomaly of chromosome pair 1, NOS en Synonym (core metadata concept) Inactive Only initial character 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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