9839007: Anomaly of chromosome pair 20 (disorder)

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

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 20

\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 20

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

17180013 Anomaly of chromosome pair 20 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

843165019 Anomaly of chromosome pair 20 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

942111000172114 anomalie du chromosome 20 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

885741000172115 anomalie van chromosoom 20 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Anomaly of chromosome pair 20	Is a	Anomaly of sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 20	Finding site	Chromosome pair 20	false	Inferred relationship	Some	1
Anomaly of chromosome pair 20	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Anomaly of chromosome pair 20	Occurrence	Congenital	false	Inferred relationship	Some
Anomaly of chromosome pair 20	Finding site	Sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 20	Is a	Anomaly of chromosome pair	true	Inferred relationship	Some
Anomaly of chromosome pair 20	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Anomaly of chromosome pair 20	Associated morphology	Congenital anomaly	false	Inferred relationship	Some
Anomaly of chromosome pair 20	Finding site	Chromosome pair 20	false	Inferred relationship	Some	1
Anomaly of chromosome pair 20	Occurrence	Congenital	true	Inferred relationship	Some	1
Anomaly of chromosome pair 20	Finding site	Chromosome pair 20	true	Inferred relationship	Some	1
Anomaly of chromosome pair 20	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
20p partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 20	Inferred relationship	Some
20q partial trisomy (disorder)	Is a	False	Anomaly of chromosome pair 20	Inferred relationship	Some
Ring chromosome 20 syndrome	Is a	True	Anomaly of chromosome pair 20	Inferred relationship	Some
Complete trisomy 20 syndrome (disorder)	Is a	True	Anomaly of chromosome pair 20	Inferred relationship	Some
Polymorphous corneal dystrophy	Is a	False	Anomaly of chromosome pair 20	Inferred relationship	Some
Congenital hereditary endothelial dystrophy (disorder)	Is a	True	Anomaly of chromosome pair 20	Inferred relationship	Some
Maternal uniparental disomy of chromosome 20 (disorder)	Is a	True	Anomaly of chromosome pair 20	Inferred relationship	Some
Paternal uniparental disomy of chromosome 20 (disorder)	Is a	True	Anomaly of chromosome pair 20	Inferred relationship	Some
20p12.3 microdeletion syndrome (disorder)	Is a	False	Anomaly of chromosome pair 20	Inferred relationship	Some
Deletion of part of chromosome 20 (disorder)	Is a	True	Anomaly of chromosome pair 20	Inferred relationship	Some
Partial trisomy of chromosome 20 (disorder)	Is a	True	Anomaly of chromosome pair 20	Inferred relationship	Some
Mosaic trisomy 20 syndrome (disorder)	Is a	True	Anomaly of chromosome pair 20	Inferred relationship	Some

This concept is not in any reference sets