27183007: Anomaly of chromosome pair 14 (disorder)

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

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 14

\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 14

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

45457017 Anomaly of chromosome pair 14 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

757721014 Anomaly of chromosome pair 14 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2480121000052117 anomali i kromosompar 14 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
Anomaly of chromosome pair 14	Is a	Anomaly of sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 14	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Anomaly of chromosome pair 14	Finding site	Sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 14	Occurrence	Congenital	false	Inferred relationship	Some
Anomaly of chromosome pair 14	Finding site	Chromosome pair 14	false	Inferred relationship	Some	1
Anomaly of chromosome pair 14	Is a	Anomaly of chromosome pair	true	Inferred relationship	Some
Anomaly of chromosome pair 14	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Anomaly of chromosome pair 14	Associated morphology	kongenital anomali	false	Inferred relationship	Some
Anomaly of chromosome pair 14	Finding site	Chromosome pair 14	false	Inferred relationship	Some	1
Anomaly of chromosome pair 14	Occurrence	Congenital	true	Inferred relationship	Some	1
Anomaly of chromosome pair 14	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1
Anomaly of chromosome pair 14	Finding site	Chromosome pair 14	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
komplett trisomi 14-syndrom	Is a	False	Anomaly of chromosome pair 14	Inferred relationship	Some
14q partial trisomy (disorder)	Is a	False	Anomaly of chromosome pair 14	Inferred relationship	Some
14q11.2 microdeletion syndrome (disorder)	Is a	False	Anomaly of chromosome pair 14	Inferred relationship	Some
14q12 microdeletion syndrome (disorder)	Is a	False	Anomaly of chromosome pair 14	Inferred relationship	Some
Deletion of part of chromosome 14 (disorder)	Is a	True	Anomaly of chromosome pair 14	Inferred relationship	Some
Partial trisomy of chromosome 14 (disorder)	Is a	True	Anomaly of chromosome pair 14	Inferred relationship	Some
Mosaic trisomy 14 syndrome (disorder)	Is a	True	Anomaly of chromosome pair 14	Inferred relationship	Some
Maternal uniparental disomy of chromosome 14	Is a	True	Anomaly of chromosome pair 14	Inferred relationship	Some
Paternal uniparental disomy of chromosome 14	Is a	True	Anomaly of chromosome pair 14	Inferred relationship	Some
Ring chromosome 14 syndrome (disorder)	Is a	True	Anomaly of chromosome pair 14	Inferred relationship	Some

This concept is not in any reference sets