897564008: Distal deletion of long arm of chromosome 12 (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 12 (disorder)\Deletion of part of long arm of chromosome 12 (disorder)\Distal deletion of long arm of chromosome 12 (disorder)

\Anomaly of chromosome pair 12\Deletion of part of chromosome 12 (disorder)\Deletion of part of long arm of chromosome 12 (disorder)\Distal deletion of long arm of chromosome 12 (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 12 (disorder)\Deletion of part of long arm of chromosome 12 (disorder)\Distal deletion of long arm of chromosome 12 (disorder)

\Anomaly of chromosome pair 12\Deletion of part of chromosome 12 (disorder)\Deletion of part of long arm of chromosome 12 (disorder)\Distal deletion of long arm of chromosome 12 (disorder)

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

4034333014 Distal deletion of long arm of chromosome 12 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4034334015 Distal deletion of long arm of chromosome 12 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5234030011 Distal monosomy 12q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4034333014 Distal deletion of long arm of chromosome 12 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4034334015 Distal deletion of long arm of chromosome 12 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5234030011 Distal monosomy 12q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6087461000241111 délétion distale du bras long du chromosome 12 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6087471000241115 délétion distale du chromosome 12q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6087481000241118 délétion distale 12q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6087461000241111 délétion distale du bras long du chromosome 12 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6087471000241115 délétion distale du chromosome 12q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6087481000241118 délétion distale 12q 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
Distal deletion of long arm of chromosome 12 (disorder)	Is a	Deletion of part of long arm of chromosome 12 (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Distal deletion of long arm of chromosome 12 (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Distal deletion of long arm of chromosome 12 (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Distal deletion of long arm of chromosome 12 (disorder)	Finding site	Chromosome pair 12	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Distal deletion of long arm of chromosome 12 (disorder)	Associated morphology	Deletion of long arm	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Distal deletion of long arm of chromosome 12 (disorder)	Finding site	Chromosome pair 12	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Distal deletion of long arm of chromosome 12 (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Distal deletion of long arm of chromosome 12 (disorder)	Finding site	Long arm of chromosome (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Distal deletion of long arm of chromosome 12 (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships

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Reference Sets