270889005: Deletion of long arm of chromosome 18 (disorder)

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

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

\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 18 (disorder)\Deletion of long arm of chromosome 18

\Anomaly of chromosome pair 18\Deletion of part of chromosome 18 (disorder)\Deletion of long arm of chromosome 18

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

\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 18 (disorder)\Deletion of long arm of chromosome 18

\Anomaly of chromosome pair 18\Deletion of part of chromosome 18 (disorder)\Deletion of long arm of chromosome 18

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

405346013 Deletion of long arm of chromosome 18 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

405347016 18q- syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

663271013 Deletion of long arm of chromosome 18 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deletion of long arm of chromosome 18	Is a	Deletion of part of autosome	false	Inferred relationship	Some
Deletion of long arm of chromosome 18	Occurrence	Congenital	false	Inferred relationship	Some
Deletion of long arm of chromosome 18	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Deletion of long arm of chromosome 18	Finding site	Chromosome structure	false	Inferred relationship	Some	1
Deletion of long arm of chromosome 18	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Deletion of long arm of chromosome 18	Finding site	Chromosome structure	false	Inferred relationship	Some	1
Deletion of long arm of chromosome 18	Associated morphology	Congenital anomaly	false	Inferred relationship	Some
Deletion of long arm of chromosome 18	Occurrence	Congenital	true	Inferred relationship	Some	1
Deletion of long arm of chromosome 18	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
Deletion of long arm of chromosome 18	Finding site	Chromosome	false	Inferred relationship	Some	1
Deletion of long arm of chromosome 18	Is a	Deletion of part of chromosome 18 (disorder)	true	Inferred relationship	Some
Deletion of long arm of chromosome 18	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
Deletion of long arm of chromosome 18	Finding site	Chromosome pair 18	true	Inferred relationship	Some	1
Deletion of long arm of chromosome 18	Finding site	Chromosome pair 18	true	Inferred relationship	Some	2
Deletion of long arm of chromosome 18	Associated morphology	Deletion of long arm	true	Inferred relationship	Some	2
Deletion of long arm of chromosome 18	Occurrence	Congenital	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
18q partial monosomy syndrome	Is a	True	Deletion of long arm of chromosome 18	Inferred relationship	Some

This concept is not in any reference sets