17122004: 4p 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 4 (disorder)\4p partial monosomy syndrome

\Anomaly of chromosome pair 4\Deletion of part of chromosome 4 (disorder)\4p partial monosomy 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 4 (disorder)\4p partial monosomy syndrome

\Anomaly of chromosome pair 4\Deletion of part of chromosome 4 (disorder)\4p partial monosomy syndrome

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

1221474011 Deletion of short arm of chromosome 4 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

28958010 4p partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

28959019 Chromosome 4 short arm deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

28960012 4p minus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

28961011 Midline fusion defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

744279014 4p partial monosomy 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
4p partial monosomy syndrome	est un(e) (attribut)	Deletion of part of autosome	false	Inferred relationship	Some
4p partial monosomy syndrome	est un(e) (attribut)	Anomaly of chromosome pair 4	false	Inferred relationship	Some
4p partial monosomy syndrome	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
4p partial monosomy syndrome	localisation d'une constatation (attribut)	Chromosome pair 4 (cell structure)	false	Inferred relationship	Some	1
4p partial monosomy syndrome	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some
4p partial monosomy syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	1
4p partial monosomy syndrome	localisation d'une constatation (attribut)	Chromosome pair 4 (cell structure)	true	Inferred relationship	Some	1
4p partial monosomy syndrome	est un(e) (attribut)	Deletion of part of autosome	false	Inferred relationship	Some
4p partial monosomy syndrome	morphologie associée (attribut)	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
4p partial monosomy syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	2
4p partial monosomy syndrome	morphologie associée (attribut)	Deletion of short arm	true	Inferred relationship	Some	2
4p partial monosomy syndrome	localisation d'une constatation (attribut)	Chromosome pair 4 (cell structure)	true	Inferred relationship	Some	2
4p partial monosomy syndrome	est un(e) (attribut)	Deletion of part of chromosome 4 (disorder)	true	Inferred relationship	Some
4p partial monosomy syndrome	localisation d'une constatation (attribut)	Sex chromosome (cell structure)	false	Inferred relationship	Some
4p partial monosomy syndrome	morphologie associée (attribut)	Monosomy	false	Inferred relationship	Some
4p partial monosomy syndrome	localisation d'une constatation (attribut)	Chromosome pair 4 (cell structure)	false	Inferred relationship	Some	1
4p partial monosomy syndrome	morphologie associée (attribut)	Deletion of short arm	false	Inferred relationship	Some
4p partial monosomy syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) (disorder)	est un(e) (attribut)	False	4p partial monosomy syndrome	Inferred relationship	Some
Aplasia cutis in Chromosome 4 short-arm deletion syndrome (Wolf-Hirschhorn) (disorder)	associé à (attribut)	True	4p partial monosomy syndrome	Inferred relationship	Some	2

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)