48082007: Anomaly of chromosome pair 8 (disorder)

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

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 8

\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 8

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

80127019 Anomaly of chromosome pair 8 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

785611019 Anomaly of chromosome pair 8 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2478541000052111 anomali i kromosompar 8 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 8	Is a	Anomaly of sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 8	Finding site	Chromosome pair 8	false	Inferred relationship	Some	1
Anomaly of chromosome pair 8	Finding site	Sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 8	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Anomaly of chromosome pair 8	Occurrence	Congenital	false	Inferred relationship	Some
Anomaly of chromosome pair 8	Is a	Anomaly of chromosome pair	true	Inferred relationship	Some
Anomaly of chromosome pair 8	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Anomaly of chromosome pair 8	Associated morphology	kongenital anomali	false	Inferred relationship	Some
Anomaly of chromosome pair 8	Finding site	Chromosome pair 8	false	Inferred relationship	Some	1
Anomaly of chromosome pair 8	Occurrence	Congenital	true	Inferred relationship	Some	1
Anomaly of chromosome pair 8	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1
Anomaly of chromosome pair 8	Finding site	Chromosome pair 8	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
8q partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 8	Inferred relationship	Some
8p partial monosomy syndrome	Is a	False	Anomaly of chromosome pair 8	Inferred relationship	Some
8q partial monosomy syndrome	Is a	False	Anomaly of chromosome pair 8	Inferred relationship	Some
Complete trisomy 8 syndrome	Is a	True	Anomaly of chromosome pair 8	Inferred relationship	Some
partiellt trisomi 8p-syndrom	Is a	False	Anomaly of chromosome pair 8	Inferred relationship	Some
Ring chromosome 8 syndrome (disorder)	Is a	True	Anomaly of chromosome pair 8	Inferred relationship	Some
Mosaic trisomy 8 syndrome (disorder)	Is a	True	Anomaly of chromosome pair 8	Inferred relationship	Some
Recombinant chromosome 8 syndrome (disorder)	Is a	True	Anomaly of chromosome pair 8	Inferred relationship	Some
8p inverted duplication deletion syndrome (disorder)	Is a	True	Anomaly of chromosome pair 8	Inferred relationship	Some
Deletion of part of chromosome 8 (disorder)	Is a	True	Anomaly of chromosome pair 8	Inferred relationship	Some
Partial trisomy of chromosome 8	Is a	True	Anomaly of chromosome pair 8	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set