726383004: Deletion of part 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)

\Anomaly of chromosome pair 12\Deletion of part of chromosome 12 (disorder)\Deletion of part 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)

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

3464841018 Deletion of part of long arm of chromosome 12 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3464842013 Deletion of part of long arm of chromosome 12 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3464841018 Deletion of part of long arm of chromosome 12 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3464842013 Deletion of part of long arm of chromosome 12 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6046741000241111 monosomie partielle 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

6046751000241114 délétion partielle 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

6046741000241111 monosomie partielle 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

6046751000241114 délétion partielle 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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deletion of part of long arm of chromosome 12 (disorder)	Is a	Deletion of part of chromosome 12 (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Deletion of part of long arm of chromosome 12 (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Deletion of part of long arm of chromosome 12 (disorder)	Finding site	Chromosome pair 12	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Deletion of part of long arm of chromosome 12 (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Deletion of part of long arm of chromosome 12 (disorder)	Finding site	Chromosome pair 12	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Deletion of part of long arm of chromosome 12 (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Deletion of part of long arm of chromosome 12 (disorder)	Associated morphology	Deletion of long arm	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Deletion of part of long arm of chromosome 12 (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Deletion of part of long arm of chromosome 12 (disorder)	Finding site	Long arm of chromosome (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Deletion of part of long arm of chromosome 12 (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
12q14 microdeletion syndrome (disorder)	Is a	True	Deletion of part of long arm of chromosome 12 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
12q15q21.1 microdeletion syndrome (disorder)	Is a	True	Deletion of part of long arm of chromosome 12 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Non-distal monosomy 12q (disorder)	Is a	True	Deletion of part of long arm of chromosome 12 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
12q15 deletion syndrome (disorder)	Is a	True	Deletion of part of long arm of chromosome 12 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
12q24.31-q24.32 deletion syndrome	Is a	True	Deletion of part of long arm of chromosome 12 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Distal deletion of long arm of chromosome 12 (disorder)	Is a	True	Deletion of part of long arm of chromosome 12 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Proximal deletion of long arm of chromosome 12	Is a	True	Deletion of part of long arm of chromosome 12 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets