897526006: Distal deletion of long arm of chromosome 8 (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 8 (disorder)\8q partial monosomy syndrome\Distal deletion of long arm of chromosome 8 (disorder)

\Anomaly of chromosome pair 8\Deletion of part of chromosome 8 (disorder)\8q partial monosomy syndrome\Distal deletion of long arm of chromosome 8 (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 8 (disorder)\8q partial monosomy syndrome\Distal deletion of long arm of chromosome 8 (disorder)

\Anomaly of chromosome pair 8\Deletion of part of chromosome 8 (disorder)\8q partial monosomy syndrome\Distal deletion of long arm of chromosome 8 (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

4034243014 Distal deletion of long arm of chromosome 8 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4034244015 Distal deletion of long arm of chromosome 8 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4042285010 Distal monosomy 8q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4034243014 Distal deletion of long arm of chromosome 8 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4034244015 Distal deletion of long arm of chromosome 8 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4042285010 Distal monosomy 8q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6087261000241112 délétion distale 8q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6087271000241116 délétion distale du chromosome 8q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6087281000241119 délétion distale du bras long du chromosome 8 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6087261000241112 délétion distale 8q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6087271000241116 délétion distale du chromosome 8q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6087281000241119 délétion distale du bras long du chromosome 8 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 8 (disorder)	Is a	8q partial monosomy syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Distal deletion of long arm of chromosome 8 (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Distal deletion of long arm of chromosome 8 (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Distal deletion of long arm of chromosome 8 (disorder)	Finding site	Chromosome pair 8	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Distal deletion of long arm of chromosome 8 (disorder)	Finding site	Chromosome pair 8	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Distal deletion of long arm of chromosome 8 (disorder)	Associated morphology	Deletion of long arm	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Distal deletion of long arm of chromosome 8 (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets