9839007: Anomaly of chromosome pair 20 (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\Anomaly of chromosome pair 20

\Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\Anomaly of chromosome pair 20

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

17180013 Anomaly of chromosome pair 20 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

392511000241111 anomalie du chromosome 20 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

843165019 Anomaly of chromosome pair 20 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

942111000172114 anomalie du chromosome 20 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Anomaly of chromosome pair 20	est un(e) (attribut)	Anomaly of chromosome pair	true	Inferred relationship	Some
Anomaly of chromosome pair 20	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Anomaly of chromosome pair 20	est un(e) (attribut)	Anomaly of sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 20	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some
Anomaly of chromosome pair 20	localisation d'une constatation (attribut)	Chromosome pair 20 (cell structure)	false	Inferred relationship	Some	1
Anomaly of chromosome pair 20	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Anomaly of chromosome pair 20	localisation d'une constatation (attribut)	Chromosome pair 20 (cell structure)	true	Inferred relationship	Some	1
Anomaly of chromosome pair 20	morphologie associée (attribut)	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1
Anomaly of chromosome pair 20	localisation d'une constatation (attribut)	Chromosome pair 20 (cell structure)	false	Inferred relationship	Some	1
Anomaly of chromosome pair 20	morphologie associée (attribut)	Alteration of chromosome structure	false	Inferred relationship	Some
Anomaly of chromosome pair 20	survenue (attribut)	congénital	false	Inferred relationship	Some
Anomaly of chromosome pair 20	localisation d'une constatation (attribut)	Sex chromosome (cell structure)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
20q partial trisomy (disorder)	est un(e) (attribut)	False	Anomaly of chromosome pair 20	Inferred relationship	Some
Ring chromosome 20 syndrome	est un(e) (attribut)	True	Anomaly of chromosome pair 20	Inferred relationship	Some
Complete trisomy 20 syndrome (disorder)	est un(e) (attribut)	True	Anomaly of chromosome pair 20	Inferred relationship	Some
Posterior polymorphous corneal dystrophy (disorder)	est un(e) (attribut)	False	Anomaly of chromosome pair 20	Inferred relationship	Some
Congenital hereditary endothelial dystrophy (disorder)	est un(e) (attribut)	True	Anomaly of chromosome pair 20	Inferred relationship	Some
20p partial trisomy syndrome	est un(e) (attribut)	False	Anomaly of chromosome pair 20	Inferred relationship	Some
Maternal uniparental disomy of chromosome 20 (disorder)	est un(e) (attribut)	True	Anomaly of chromosome pair 20	Inferred relationship	Some
Paternal uniparental disomy of chromosome 20 (disorder)	est un(e) (attribut)	True	Anomaly of chromosome pair 20	Inferred relationship	Some
20p12.3 microdeletion syndrome (disorder)	est un(e) (attribut)	False	Anomaly of chromosome pair 20	Inferred relationship	Some
Deletion of part of chromosome 20 (disorder)	est un(e) (attribut)	True	Anomaly of chromosome pair 20	Inferred relationship	Some
trisomie partielle du chromosome 20	est un(e) (attribut)	True	Anomaly of chromosome pair 20	Inferred relationship	Some
Mosaic trisomy 20 syndrome (disorder)	est un(e) (attribut)	True	Anomaly of chromosome pair 20	Inferred relationship	Some

This concept is not in any reference sets