897524009: Distal deletion of short arm of chromosome 1 (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 1 (disorder)\1p partial monosomy\Distal deletion of short arm of chromosome 1 (disorder)

\Anomaly of chromosome pair 1\Deletion of part of chromosome 1 (disorder)\1p partial monosomy\Distal deletion of short arm of chromosome 1 (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 1 (disorder)\1p partial monosomy\Distal deletion of short arm of chromosome 1 (disorder)

\Anomaly of chromosome pair 1\Deletion of part of chromosome 1 (disorder)\1p partial monosomy\Distal deletion of short arm of chromosome 1 (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

4034239010 Distal deletion of short arm of chromosome 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4034240012 Distal deletion of short arm of chromosome 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4042313012 Distal deletion 1p en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4034239010 Distal deletion of short arm of chromosome 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4034240012 Distal deletion of short arm of chromosome 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4042313012 Distal deletion 1p en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6076551000241119 délétion distale 1p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6076561000241116 délétion distale du bras court du chromosome 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6076571000241112 délétion distale du chromosome 1p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6076551000241119 délétion distale 1p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6076561000241116 délétion distale du bras court du chromosome 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6076571000241112 délétion distale du chromosome 1p 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 short arm of chromosome 1 (disorder)	Is a	1p partial monosomy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Distal deletion of short arm of chromosome 1 (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Distal deletion of short arm of chromosome 1 (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Distal deletion of short arm of chromosome 1 (disorder)	Finding site	Chromosome pair 1	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Distal deletion of short arm of chromosome 1 (disorder)	Finding site	Chromosome pair 1	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Distal deletion of short arm of chromosome 1 (disorder)	Associated morphology	Deletion of short arm	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Distal deletion of short arm of chromosome 1 (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Distal deletion of short arm of chromosome 1 (disorder)	Finding site	Short arm of chromosome	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Distal deletion of short arm of chromosome 1 (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships

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Active

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Characteristic

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This concept is not in any reference sets