1153430004: Partial deletion of long arm of chromosome 14 (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 14\Partial deletion of long arm of chromosome 14 (disorder)

\Anomaly of chromosome pair 14\Deletion of part of chromosome 14\Partial deletion of long arm of chromosome 14 (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 14\Partial deletion of long arm of chromosome 14 (disorder)

\Anomaly of chromosome pair 14\Deletion of part of chromosome 14\Partial deletion of long arm of chromosome 14 (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4564290013 Partial deletion of chromosome 14q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4564291012 Partial deletion of long arm of chromosome 14 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4564292017 Partial deletion of long arm of chromosome 14 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4564290013 Partial deletion of chromosome 14q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4564291012 Partial deletion of long arm of chromosome 14 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4564292017 Partial deletion of long arm of chromosome 14 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6466991000241117 délétion d'une partie du bras long du chromosome 14 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6467001000241112 délétion partielle du bras long du chromosome 14 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6466991000241117 délétion d'une partie du bras long du chromosome 14 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6467001000241112 délétion partielle du bras long du chromosome 14 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 14 (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Partial deletion of long arm of chromosome 14 (disorder)	Is a	Deletion of part of chromosome 14	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial deletion of long arm of chromosome 14 (disorder)	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 14 (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Partial deletion of long arm of chromosome 14 (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Partial deletion of long arm of chromosome 14 (disorder)	Finding site	Chromosome pair 14 (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Partial deletion of long arm of chromosome 14 (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
14q22q23 microdeletion syndrome	Is a	True	Partial deletion of long arm of chromosome 14 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
14q11.2 microdeletion syndrome (disorder)	Is a	True	Partial deletion of long arm of chromosome 14 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
14q24.1q24.3 microdeletion syndrome (disorder)	Is a	True	Partial deletion of long arm of chromosome 14 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
14q12 microdeletion syndrome (disorder)	Is a	True	Partial deletion of long arm of chromosome 14 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
14q32 deletion syndrome (disorder)	Is a	True	Partial deletion of long arm of chromosome 14 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Distal monosomy 14q syndrome (disorder)	Is a	True	Partial deletion of long arm of chromosome 14 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Paternal 14q32.2 microdeletion (disorder)	Is a	True	Partial deletion of long arm of chromosome 14 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets