59033006: Anomaly of chromosome pair 18 (disorder)

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

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 18

\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 18

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

98106014 Anomaly of chromosome pair 18 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

797831016 Anomaly of chromosome pair 18 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2479601000052115 anomali i kromosompar 18 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 18	Is a	Anomaly of sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 18	Finding site	Sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 18	Finding site	Chromosome pair 18	false	Inferred relationship	Some	1
Anomaly of chromosome pair 18	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Anomaly of chromosome pair 18	Occurrence	Congenital	false	Inferred relationship	Some
Anomaly of chromosome pair 18	Is a	Anomaly of chromosome pair	true	Inferred relationship	Some
Anomaly of chromosome pair 18	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Anomaly of chromosome pair 18	Finding site	Chromosome pair 18	false	Inferred relationship	Some	1
Anomaly of chromosome pair 18	Associated morphology	kongenital anomali	false	Inferred relationship	Some
Anomaly of chromosome pair 18	Occurrence	Congenital	true	Inferred relationship	Some	1
Anomaly of chromosome pair 18	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1
Anomaly of chromosome pair 18	Finding site	Chromosome pair 18	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Partial trisomy 18 in Edward's syndrome	Is a	True	Anomaly of chromosome pair 18	Inferred relationship	Some
18p partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 18	Inferred relationship	Some
18q partial monosomy syndrome	Is a	False	Anomaly of chromosome pair 18	Inferred relationship	Some
Complete trisomy 18 syndrome	Is a	True	Anomaly of chromosome pair 18	Inferred relationship	Some
18p partial monosomy syndrome	Is a	False	Anomaly of chromosome pair 18	Inferred relationship	Some
18q partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 18	Inferred relationship	Some
Ring chromosome 18 syndrome	Is a	True	Anomaly of chromosome pair 18	Inferred relationship	Some
Tetrasomy 18p	Is a	True	Anomaly of chromosome pair 18	Inferred relationship	Some
Deletion of part of chromosome 18 (disorder)	Is a	True	Anomaly of chromosome pair 18	Inferred relationship	Some
Partial trisomy of chromosome 18 (disorder)	Is a	True	Anomaly of chromosome pair 18	Inferred relationship	Some

This concept is not in any reference sets