726373003: Deletion of part of long arm of chromosome 5 (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of foetus and/or newborn\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 5 (disorder)\Deletion of part of long arm of chromosome 5 (disorder)

\Anomaly of chromosome pair 5 (disorder)\Deletion of part of chromosome 5 (disorder)\Deletion of part of long arm of chromosome 5 (disorder)

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 5 (disorder)\Deletion of part of long arm of chromosome 5 (disorder)

\Anomaly of chromosome pair 5 (disorder)\Deletion of part of chromosome 5 (disorder)\Deletion of part of long arm of chromosome 5 (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3464718015 Deletion of part of long arm of chromosome 5 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3464719011 Deletion of part of long arm of chromosome 5 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3464718015 Deletion of part of long arm of chromosome 5 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3464719011 Deletion of part of long arm of chromosome 5 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5916231000241110 délétion d'une partie du bras long du chromosome 5 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5916241000241117 délétion partielle du bras long du chromosome 5 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5916231000241110 délétion d'une partie du bras long du chromosome 5 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5916241000241117 délétion partielle du bras long du chromosome 5 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deletion of part of long arm of chromosome 5 (disorder)	Is a	Deletion of part of chromosome 5 (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Deletion of part of long arm of chromosome 5 (disorder)	Associated morphology	Deletion of long arm	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Deletion of part of long arm of chromosome 5 (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Deletion of part of long arm of chromosome 5 (disorder)	Finding site	Chromosome pair 5	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Deletion of part of long arm of chromosome 5 (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Deletion of part of long arm of chromosome 5 (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Deletion of part of long arm of chromosome 5 (disorder)	Finding site	Chromosome pair 5	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Deletion of part of long arm of chromosome 5 (disorder)	Finding site	Long arm of chromosome (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Deletion of part of long arm of chromosome 5 (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.	Is a	True	Deletion of part of long arm of chromosome 5 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Deletion 5q35 (disorder)	Is a	True	Deletion of part of long arm of chromosome 5 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
5q31.3 microdeletion syndrome	Is a	True	Deletion of part of long arm of chromosome 5 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
5q22.2 deletion syndrome	Is a	True	Deletion of part of long arm of chromosome 5 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Medial deletion of long arm of chromosome 5 (disorder)	Is a	True	Deletion of part of long arm of chromosome 5 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Proximal deletion of long arm of chromosome 5	Is a	True	Deletion of part of long arm of chromosome 5 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Joint contractures, developmental delay, Pierre Robin syndrome (disorder)	Is a	True	Deletion of part of long arm of chromosome 5 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets