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32299009: Anomaly of chromosome pair 2 (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
417421000241111 anomalie du chromosome 2 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
53956010 Anomaly of chromosome pair 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
763565016 Anomaly of chromosome pair 2 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
900601000172112 anomalie du chromosome 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)


30 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
anomalie du chromosome 2 (trouble) est un(e) (attribut) Anomaly of sex chromosome false Inferred relationship Some
anomalie du chromosome 2 (trouble) est un(e) (attribut) Anomaly of chromosome pair true Inferred relationship Some
anomalie du chromosome 2 (trouble) morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
anomalie du chromosome 2 (trouble) localisation d'une constatation (attribut) Chromosome pair 2 (cell structure) false Inferred relationship Some 1
anomalie du chromosome 2 (trouble) morphologie associée (attribut) Congenital anomaly false Inferred relationship Some
anomalie du chromosome 2 (trouble) survenue (attribut) congénital true Inferred relationship Some 1
anomalie du chromosome 2 (trouble) morphologie associée (attribut) Cellular AND/OR subcellular abnormality true Inferred relationship Some 1
anomalie du chromosome 2 (trouble) localisation d'une constatation (attribut) Chromosome pair 2 (cell structure) true Inferred relationship Some 1
anomalie du chromosome 2 (trouble) localisation d'une constatation (attribut) Sex chromosome (cell structure) false Inferred relationship Some
anomalie du chromosome 2 (trouble) survenue (attribut) congénital false Inferred relationship Some
anomalie du chromosome 2 (trouble) localisation d'une constatation (attribut) Chromosome pair 2 (cell structure) false Inferred relationship Some 1
anomalie du chromosome 2 (trouble) morphologie associée (attribut) Alteration of chromosome structure false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Overgrowth syndrome with 2q37 translocation est un(e) (attribut) True anomalie du chromosome 2 (trouble) Inferred relationship Some
2p partial trisomy syndrome est un(e) (attribut) False anomalie du chromosome 2 (trouble) Inferred relationship Some
2q partial trisomy syndrome est un(e) (attribut) False anomalie du chromosome 2 (trouble) Inferred relationship Some
Chromosome 2q37 deletion syndrome est un(e) (attribut) False anomalie du chromosome 2 (trouble) Inferred relationship Some
2q31.1 microdeletion syndrome (disorder) est un(e) (attribut) False anomalie du chromosome 2 (trouble) Inferred relationship Some
2p15p16.1 microdeletion syndrome (disorder) est un(e) (attribut) False anomalie du chromosome 2 (trouble) Inferred relationship Some
2p21 microdeletion syndrome (disorder) est un(e) (attribut) False anomalie du chromosome 2 (trouble) Inferred relationship Some
2q23.1 microdeletion syndrome (disorder) est un(e) (attribut) False anomalie du chromosome 2 (trouble) Inferred relationship Some
2q24 microdeletion syndrome (disorder) est un(e) (attribut) False anomalie du chromosome 2 (trouble) Inferred relationship Some
2q32q33 microdeletion syndrome (disorder) est un(e) (attribut) False anomalie du chromosome 2 (trouble) Inferred relationship Some
Deletion of part of chromosome 2 (disorder) est un(e) (attribut) True anomalie du chromosome 2 (trouble) Inferred relationship Some
Partial trisomy of chromosome 2 (disorder) est un(e) (attribut) True anomalie du chromosome 2 (trouble) Inferred relationship Some
Mosaic trisomy 2 syndrome est un(e) (attribut) True anomalie du chromosome 2 (trouble) Inferred relationship Some
Ring chromosome 2 syndrome (disorder) est un(e) (attribut) True anomalie du chromosome 2 (trouble) Inferred relationship Some
Maternal uniparental disomy of chromosome 2 (disorder) est un(e) (attribut) True anomalie du chromosome 2 (trouble) Inferred relationship Some

This concept is not in any reference sets

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