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48082007: Anomaly of chromosome pair 8 (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
434131000241119 anomalie du chromosome 8 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
785611019 Anomaly of chromosome pair 8 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
80127019 Anomaly of chromosome pair 8 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
80128012 Anomaly of chromosome pair 8, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
939421000172119 anomalie du chromosome 8 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)


28 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
anomalie du chromosome 8 (trouble) est un(e) (attribut) Anomaly of sex chromosome false Inferred relationship Some
anomalie du chromosome 8 (trouble) est un(e) (attribut) Anomaly of chromosome pair true Inferred relationship Some
anomalie du chromosome 8 (trouble) morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
anomalie du chromosome 8 (trouble) morphologie associée (attribut) Congenital anomaly false Inferred relationship Some
anomalie du chromosome 8 (trouble) localisation d'une constatation (attribut) Chromosome pair 8 (cell structure) false Inferred relationship Some 1
anomalie du chromosome 8 (trouble) survenue (attribut) congénital true Inferred relationship Some 1
anomalie du chromosome 8 (trouble) morphologie associée (attribut) Cellular AND/OR subcellular abnormality true Inferred relationship Some 1
anomalie du chromosome 8 (trouble) localisation d'une constatation (attribut) Chromosome pair 8 (cell structure) true Inferred relationship Some 1
anomalie du chromosome 8 (trouble) localisation d'une constatation (attribut) Chromosome pair 8 (cell structure) false Inferred relationship Some 1
anomalie du chromosome 8 (trouble) localisation d'une constatation (attribut) Sex chromosome (cell structure) false Inferred relationship Some
anomalie du chromosome 8 (trouble) morphologie associée (attribut) Alteration of chromosome structure false Inferred relationship Some
anomalie du chromosome 8 (trouble) survenue (attribut) congénital false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
8p partial monosomy syndrome est un(e) (attribut) False anomalie du chromosome 8 (trouble) Inferred relationship Some
8q partial monosomy syndrome est un(e) (attribut) False anomalie du chromosome 8 (trouble) Inferred relationship Some
Complete trisomy 8 syndrome est un(e) (attribut) True anomalie du chromosome 8 (trouble) Inferred relationship Some
8p partial trisomy syndrome est un(e) (attribut) False anomalie du chromosome 8 (trouble) Inferred relationship Some
8q partial trisomy syndrome est un(e) (attribut) False anomalie du chromosome 8 (trouble) Inferred relationship Some
syndrome du chromosome 8 en anneau est un(e) (attribut) True anomalie du chromosome 8 (trouble) Inferred relationship Some
Mosaic trisomy 8 syndrome (disorder) est un(e) (attribut) True anomalie du chromosome 8 (trouble) Inferred relationship Some
Recombinant chromosome 8 syndrome (disorder) est un(e) (attribut) True anomalie du chromosome 8 (trouble) Inferred relationship Some
8p inverted duplication deletion syndrome (disorder) est un(e) (attribut) True anomalie du chromosome 8 (trouble) Inferred relationship Some
Deletion of part of chromosome 8 (disorder) est un(e) (attribut) True anomalie du chromosome 8 (trouble) Inferred relationship Some
Partial trisomy of chromosome 8 est un(e) (attribut) True anomalie du chromosome 8 (trouble) Inferred relationship Some

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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