721158009: Deletion 5q35 (disorder)

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

\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 5\Deletion of part of long arm of chromosome 5\Deletion 5q35

\Anomaly of chromosome pair 5\Deletion of part of chromosome 5\Deletion of part of long arm of chromosome 5\Deletion 5q35

\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 5\Deletion of part of long arm of chromosome 5\Deletion 5q35

\Anomaly of chromosome pair 5\Deletion of part of chromosome 5\Deletion of part of long arm of chromosome 5\Deletion 5q35

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3324480016 Distal 5q deletion syndrome (disorder) en Fully specified name Inactive Entire term case insensitive SNOMED CT core module
3324481017 Deletion 5q35 en Synonym Active Entire term case insensitive SNOMED CT core module
3332028014 Telomeric deletion 5q en Synonym Active Entire term case insensitive SNOMED CT core module
3332029018 Distal 5q deletion syndrome en Synonym Inactive Entire term case insensitive SNOMED CT core module
3332030011 Monosomy 5q35 en Synonym Active Entire term case insensitive SNOMED CT core module
4565162011 Deletion 5q35 (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
4565163018 Distal 5q deletion en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deletion 5q35	Is a	Anomaly of chromosome pair 5	false	Inferred relationship	Existential restriction modifier
Deletion 5q35	Is a	Deletion of part of autosome	false	Inferred relationship	Existential restriction modifier
Deletion 5q35	Associated morphology	Deletion of long arm	false	Inferred relationship	Existential restriction modifier	2
Deletion 5q35	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Deletion 5q35	Finding site	Chromosome pair 5	false	Inferred relationship	Existential restriction modifier	2
Deletion 5q35	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	3
Deletion 5q35	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Deletion 5q35	Finding site	Chromosome pair 5	true	Inferred relationship	Existential restriction modifier	3
Deletion 5q35	Is a	Deletion of part of long arm of chromosome 5	true	Inferred relationship	Existential restriction modifier
Deletion 5q35	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	2
Deletion 5q35	Finding site	Long arm of chromosome	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets