1162478006: Deletion of part of long arm of chromosome 16 (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 16 (disorder)\Partial deletion of long arm of chromosome 16

\Anomaly of chromosome pair 16\Deletion of part of chromosome 16 (disorder)\Partial deletion of long arm of chromosome 16

\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 16 (disorder)\Partial deletion of long arm of chromosome 16

\Anomaly of chromosome pair 16\Deletion of part of chromosome 16 (disorder)\Partial deletion of long arm of chromosome 16

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4589698018 Partial deletion of long arm of chromosome 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4589699014 Deletion of part of long arm of chromosome 16 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4589700010 Deletion of part of long arm of chromosome 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4589698018 Partial deletion of long arm of chromosome 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4589699014 Deletion of part of long arm of chromosome 16 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4589700010 Deletion of part of long arm of chromosome 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5887361000241117 délétion partielle du bras long du chromosome 16 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5887371000241113 délétion d'une partie du bras long du chromosome 16 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5887361000241117 délétion partielle du bras long du chromosome 16 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5887371000241113 délétion d'une partie du bras long du chromosome 16 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
Partial deletion of long arm of chromosome 16	Is a	Deletion of part of chromosome 16 (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial deletion of long arm of chromosome 16	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Partial deletion of long arm of chromosome 16	Finding site	Long arm of chromosome (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Partial deletion of long arm of chromosome 16	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Partial deletion of long arm of chromosome 16	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Partial deletion of long arm of chromosome 16	Finding site	Chromosome pair 16 (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Partial deletion of long arm of chromosome 16	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
16q24.1 microdeletion syndrome (disorder)	Is a	True	Partial deletion of long arm of chromosome 16	Inferred relationship	Existential restriction modifier (core metadata concept)
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.	Is a	True	Partial deletion of long arm of chromosome 16	Inferred relationship	Existential restriction modifier (core metadata concept)
Distal deletion of long arm of chromosome 16	Is a	True	Partial deletion of long arm of chromosome 16	Inferred relationship	Existential restriction modifier (core metadata concept)
Proximal deletion of long arm of chromosome 16 (disorder)	Is a	True	Partial deletion of long arm of chromosome 16	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets