44710007: Anomaly of chromosome pair 6 (disorder)

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 6

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 6

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

74584016 Anomaly of chromosome pair 6 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

781869015 Anomaly of chromosome pair 6 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1723701000005110 Anomali i kromosompar 6 da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) dansk modul

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Anomaly of chromosome pair 6	Is a	Anomaly of sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 6	Finding site	Sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 6	Finding site	Chromosome pair 6	false	Inferred relationship	Some	1
Anomaly of chromosome pair 6	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Anomaly of chromosome pair 6	Occurrence	Congenital	false	Inferred relationship	Some
Anomaly of chromosome pair 6	Is a	Anomaly of chromosome pair	true	Inferred relationship	Some
Anomaly of chromosome pair 6	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Anomaly of chromosome pair 6	Associated morphology	kongenit anomali	false	Inferred relationship	Some
Anomaly of chromosome pair 6	Finding site	Chromosome pair 6	false	Inferred relationship	Some	1
Anomaly of chromosome pair 6	Occurrence	Congenital	true	Inferred relationship	Some	1
Anomaly of chromosome pair 6	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1
Anomaly of chromosome pair 6	Finding site	Chromosome pair 6	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
6q partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 6	Inferred relationship	Some
6p partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 6	Inferred relationship	Some
Distal monosomy 6p (disorder)	Is a	False	Anomaly of chromosome pair 6	Inferred relationship	Some
6p22 microdeletion syndrome (disorder)	Is a	False	Anomaly of chromosome pair 6	Inferred relationship	Some
6q25 microdeletion syndrome (disorder)	Is a	False	Anomaly of chromosome pair 6	Inferred relationship	Some
6q terminal deletion syndrome (disorder)	Is a	False	Anomaly of chromosome pair 6	Inferred relationship	Some
Distal trisomy 6p syndrome (disorder)	Is a	False	Anomaly of chromosome pair 6	Inferred relationship	Some
Deletion of part of chromosome 6 (disorder)	Is a	True	Anomaly of chromosome pair 6	Inferred relationship	Some
Partial trisomy of chromosome 6	Is a	True	Anomaly of chromosome pair 6	Inferred relationship	Some
Ring chromosome 6 syndrome (disorder)	Is a	True	Anomaly of chromosome pair 6	Inferred relationship	Some
Maternal uniparental disomy of chromosome 6 (disorder)	Is a	True	Anomaly of chromosome pair 6	Inferred relationship	Some
Paternal uniparental disomy of chromosome 6	Is a	True	Anomaly of chromosome pair 6	Inferred relationship	Some

This concept is not in any reference sets