1003449005: Paternal 14q32.2 microdeletion (disorder)

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

\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 (disorder)\Partial deletion of long arm of chromosome 14 (disorder)\Paternal 14q32.2 microdeletion (disorder)

\Anomaly of chromosome pair 14\Deletion of part of chromosome 14 (disorder)\Partial deletion of long arm of chromosome 14 (disorder)\Paternal 14q32.2 microdeletion (disorder)

\Congenital disease (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 (disorder)\Partial deletion of long arm of chromosome 14 (disorder)\Paternal 14q32.2 microdeletion (disorder)

\Anomaly of chromosome pair 14\Deletion of part of chromosome 14 (disorder)\Partial deletion of long arm of chromosome 14 (disorder)\Paternal 14q32.2 microdeletion (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

4164743018 Paternal 14q32.2 microdeletion (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4164744012 Paternal 14q32.2 microdeletion en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4164745013 Paternal monosomy 14q32.2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4827741000052115 paternella 14q32.2-mikrodeletionssyndromet sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Paternal 14q32.2 microdeletion (disorder)	Is a	Deletion of part of chromosome 14 (disorder)	false	Inferred relationship	Some
Paternal 14q32.2 microdeletion (disorder)	Is a	Congenital malformation	false	Inferred relationship	Some
Paternal 14q32.2 microdeletion (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
Paternal 14q32.2 microdeletion (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Paternal 14q32.2 microdeletion (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Paternal 14q32.2 microdeletion (disorder)	Finding site	Chromosome pair 14	true	Inferred relationship	Some	1
Paternal 14q32.2 microdeletion (disorder)	Associated morphology	Deletion of long arm	false	Inferred relationship	Some	2
Paternal 14q32.2 microdeletion (disorder)	Finding site	Long arm of chromosome	true	Inferred relationship	Some	2
Paternal 14q32.2 microdeletion (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Paternal 14q32.2 microdeletion (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Paternal 14q32.2 microdeletion (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
Paternal 14q32.2 microdeletion (disorder)	Is a	Partial deletion of long arm of chromosome 14 (disorder)	true	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets