17760001: Anomaly of chromosome pair 13 (disorder)

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

\anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\Anomaly of chromosome pair 13

\Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\Anomaly of chromosome pair 13

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

30013010 Anomaly of chromosome pair 13 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

401251000241112 anomalie du chromosome 13 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

745100012 Anomaly of chromosome pair 13 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

931371000172112 anomalie du chromosome 13 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 13	est un(e) (attribut)	Anomaly of sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 13	est un(e) (attribut)	Anomaly of chromosome pair	true	Inferred relationship	Some
Anomaly of chromosome pair 13	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Anomaly of chromosome pair 13	localisation d'une constatation (attribut)	Chromosome pair 13 (cell structure)	false	Inferred relationship	Some	1
Anomaly of chromosome pair 13	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some
Anomaly of chromosome pair 13	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Anomaly of chromosome pair 13	localisation d'une constatation (attribut)	Chromosome pair 13 (cell structure)	true	Inferred relationship	Some	1
Anomaly of chromosome pair 13	morphologie associée (attribut)	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1
Anomaly of chromosome pair 13	localisation d'une constatation (attribut)	Sex chromosome (cell structure)	false	Inferred relationship	Some
Anomaly of chromosome pair 13	survenue (attribut)	congénital	false	Inferred relationship	Some
Anomaly of chromosome pair 13	localisation d'une constatation (attribut)	Chromosome pair 13 (cell structure)	false	Inferred relationship	Some	1
Anomaly of chromosome pair 13	morphologie associée (attribut)	Alteration of chromosome structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Complete trisomy 13 syndrome	est un(e) (attribut)	False	Anomaly of chromosome pair 13	Inferred relationship	Some
13q partial trisomy syndrome	est un(e) (attribut)	False	Anomaly of chromosome pair 13	Inferred relationship	Some
13q partial monosomy syndrome	est un(e) (attribut)	False	Anomaly of chromosome pair 13	Inferred relationship	Some
13p partial trisomy syndrome	est un(e) (attribut)	False	Anomaly of chromosome pair 13	Inferred relationship	Some
Complete trisomy 13 syndrome	est un(e) (attribut)	True	Anomaly of chromosome pair 13	Inferred relationship	Some
Ring chromosome 13 syndrome (disorder)	est un(e) (attribut)	True	Anomaly of chromosome pair 13	Inferred relationship	Some
Deletion of part of chromosome 13 (disorder)	est un(e) (attribut)	True	Anomaly of chromosome pair 13	Inferred relationship	Some
Partial trisomy of chromosome 13	est un(e) (attribut)	True	Anomaly of chromosome pair 13	Inferred relationship	Some
Partial trisomy 13 in Patau's syndrome	est un(e) (attribut)	True	Anomaly of chromosome pair 13	Inferred relationship	Some
Paternal uniparental disomy of chromosome 13	est un(e) (attribut)	True	Anomaly of chromosome pair 13	Inferred relationship	Some
Maternal uniparental disomy of chromosome 13	est un(e) (attribut)	True	Anomaly of chromosome pair 13	Inferred relationship	Some

Reference Sets

Canada English language reference set (foundation metadata concept)