890125004: 7p12-p14 deletion syndrome (disorder)

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

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

\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 7 (disorder)\7p partial monosomy (disorder)\7p12-p14 deletion syndrome

\anomalie du chromosome 7 (trouble)\Deletion of part of chromosome 7 (disorder)\7p partial monosomy (disorder)\7p12-p14 deletion syndrome

\Congenital disease\Congenital malformation\7p12-p14 deletion syndrome
\Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 7 (disorder)\7p partial monosomy (disorder)\7p12-p14 deletion syndrome
\Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 7 (trouble)\Deletion of part of chromosome 7 (disorder)\7p partial monosomy (disorder)\7p12-p14 deletion syndrome

\trouble du développement\Congenital malformation\7p12-p14 deletion syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4009216015 7p12-p14 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4011215014 7p12-p14 deletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
7p12-p14 deletion syndrome	est un(e) (attribut)	7p partial monosomy (disorder)	true	Inferred relationship	Some
7p12-p14 deletion syndrome	morphologie associée (attribut)	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
7p12-p14 deletion syndrome	localisation d'une constatation (attribut)	Chromosome pair 7	true	Inferred relationship	Some	1
7p12-p14 deletion syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	1
7p12-p14 deletion syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
7p12-p14 deletion syndrome	localisation d'une constatation (attribut)	Chromosome pair 7	false	Inferred relationship	Some	2
7p12-p14 deletion syndrome	morphologie associée (attribut)	Deletion of short arm	false	Inferred relationship	Some	2
7p12-p14 deletion syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	2
7p12-p14 deletion syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
7p12-p14 deletion syndrome	localisation d'une constatation (attribut)	Short arm of chromosome (cell structure)	true	Inferred relationship	Some	2
7p12-p14 deletion syndrome	morphologie associée (attribut)	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
7p12-p14 deletion syndrome	est un(e) (attribut)	Congenital malformation	true	Inferred relationship	Some

Inbound Relationships

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Reference Sets

Description inactivation indicator reference set