403759001: anomalie chromosomique autosomique (trouble)

SNOMED CT Concept\constatation clinique\Disease\anomalie chromosomique\Autosomal chromosomal disorder (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1771685010 Autosomal chromosomal disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1782769019 Autosomal chromosomal disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

340451000077119 anomalie chromosomique autosomique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

624861000077118 anomalie chromosomique autosomique (trouble) fr Fully specified name 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
Autosomal chromosomal disorder (disorder)	est un(e) (attribut)	maladie chromosomique congénitale	false	Inferred relationship	Some
Autosomal chromosomal disorder (disorder)	morphologie associée (attribut)	Alteration of chromosome structure	false	Inferred relationship	Some
Autosomal chromosomal disorder (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some
Autosomal chromosomal disorder (disorder)	localisation d'une constatation (attribut)	Chromosome structure (cell structure)	false	Inferred relationship	Some	1
Autosomal chromosomal disorder (disorder)	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Autosomal chromosomal disorder (disorder)	est un(e) (attribut)	anomalie chromosomique	true	Inferred relationship	Some
Autosomal chromosomal disorder (disorder)	localisation d'une constatation (attribut)	Chromosome structure (cell structure)	false	Inferred relationship	Some
Autosomal chromosomal disorder (disorder)	localisation d'une constatation (attribut)	Chromosome structure (cell structure)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Tetrasomy 5p mosaicism	est un(e) (attribut)	False	Autosomal chromosomal disorder (disorder)	Inferred relationship	Some
Tetrasomy 15q (disorder)	est un(e) (attribut)	False	Autosomal chromosomal disorder (disorder)	Inferred relationship	Some
Autosomal duplication (disorder)	est un(e) (attribut)	True	Autosomal chromosomal disorder (disorder)	Inferred relationship	Some
Autosomal aneuploidy (disorder)	est un(e) (attribut)	True	Autosomal chromosomal disorder (disorder)	Inferred relationship	Some
Autosomal translocation	est un(e) (attribut)	True	Autosomal chromosomal disorder (disorder)	Inferred relationship	Some
Maternal uniparental disomy of chromosome 20 (disorder)	est un(e) (attribut)	False	Autosomal chromosomal disorder (disorder)	Inferred relationship	Some
Paternal uniparental disomy of chromosome 20 (disorder)	est un(e) (attribut)	False	Autosomal chromosomal disorder (disorder)	Inferred relationship	Some
Uniparental disomy (disorder)	est un(e) (attribut)	False	Autosomal chromosomal disorder (disorder)	Inferred relationship	Some

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set