4242009: 18q partial monosomy 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 18 (disorder)\Deletion of long arm of chromosome 18\18q partial monosomy syndrome (disorder)

\anomalie du chromosome 18 (trouble)\Deletion of part of chromosome 18 (disorder)\Deletion of long arm of chromosome 18\18q partial monosomy syndrome (disorder)

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

\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 18 (disorder)\Deletion of long arm of chromosome 18\18q partial monosomy syndrome (disorder)

\anomalie du chromosome 18 (trouble)\Deletion of part of chromosome 18 (disorder)\Deletion of long arm of chromosome 18\18q partial monosomy syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

779318016 18q partial monosomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

8152014 18q partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

8153016 18q minus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

8154010 Long arm 18 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
18q partial monosomy syndrome (disorder)	est un(e) (attribut)	Deletion of long arm of chromosome 18	true	Inferred relationship	Some
18q partial monosomy syndrome (disorder)	est un(e) (attribut)	anomalie du chromosome 18 (trouble)	false	Inferred relationship	Some
18q partial monosomy syndrome (disorder)	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
18q partial monosomy syndrome (disorder)	localisation d'une constatation (attribut)	Chromosome pair 18 (cell structure)	false	Inferred relationship	Some	1
18q partial monosomy syndrome (disorder)	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some
18q partial monosomy syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
18q partial monosomy syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
18q partial monosomy syndrome (disorder)	localisation d'une constatation (attribut)	Chromosome pair 18 (cell structure)	true	Inferred relationship	Some	1
18q partial monosomy syndrome (disorder)	est un(e) (attribut)	Deletion of part of autosome	false	Inferred relationship	Some
18q partial monosomy syndrome (disorder)	morphologie associée (attribut)	Deletion of long arm	true	Inferred relationship	Some	1
18q partial monosomy syndrome (disorder)	morphologie associée (attribut)	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
18q partial monosomy syndrome (disorder)	localisation d'une constatation (attribut)	Chromosome pair 18 (cell structure)	true	Inferred relationship	Some	2
18q partial monosomy syndrome (disorder)	est un(e) (attribut)	Deletion of part of chromosome 18 (disorder)	false	Inferred relationship	Some
18q partial monosomy syndrome (disorder)	morphologie associée (attribut)	Monosomy	false	Inferred relationship	Some
18q partial monosomy syndrome (disorder)	localisation d'une constatation (attribut)	Chromosome pair 18 (cell structure)	false	Inferred relationship	Some	1
18q partial monosomy syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some
18q partial monosomy syndrome (disorder)	morphologie associée (attribut)	Deletion of long arm	false	Inferred relationship	Some
18q partial monosomy syndrome (disorder)	localisation d'une constatation (attribut)	Sex chromosome (cell structure)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Proximal deletion of long arm of chromosome 18	est un(e) (attribut)	True	18q partial monosomy syndrome (disorder)	Inferred relationship	Some
Proximal chromosome 18q deletion syndrome (disorder)	est un(e) (attribut)	True	18q partial monosomy syndrome (disorder)	Inferred relationship	Some
Distal chromosome 18q deletion syndrome	est un(e) (attribut)	True	18q partial monosomy syndrome (disorder)	Inferred relationship	Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)