19419002: 8p partial monosomy syndrome (disorder)

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

\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 8 (disorder)\8p partial monosomy syndrome

\Anomaly of chromosome pair 8\Deletion of part of chromosome 8 (disorder)\8p partial monosomy syndrome

\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 8 (disorder)\8p partial monosomy syndrome

\Anomaly of chromosome pair 8\Deletion of part of chromosome 8 (disorder)\8p partial monosomy syndrome

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

32716018 8p partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
747520019 8p partial monosomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2478831000052115 partiellt monosomi 8p-syndrom 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
8p partial monosomy syndrome	Is a	Anomaly of chromosome pair 8	false	Inferred relationship	Some
8p partial monosomy syndrome	Is a	Deletion of part of autosome	false	Inferred relationship	Some
8p partial monosomy syndrome	Associated morphology	Monosomy	false	Inferred relationship	Some
8p partial monosomy syndrome	Associated morphology	Deletion of short arm	false	Inferred relationship	Some
8p partial monosomy syndrome	Occurrence	Congenital	false	Inferred relationship	Some
8p partial monosomy syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
8p partial monosomy syndrome	Finding site	Chromosome pair 8	false	Inferred relationship	Some	1
8p partial monosomy syndrome	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
8p partial monosomy syndrome	Associated morphology	kongenital anomali	false	Inferred relationship	Some
8p partial monosomy syndrome	Finding site	Chromosome pair 8	false	Inferred relationship	Some	1
8p partial monosomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
8p partial monosomy syndrome	Finding site	Chromosome pair 8	true	Inferred relationship	Some	1
8p partial monosomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
8p partial monosomy syndrome	Finding site	Chromosome pair 8	true	Inferred relationship	Some	2
8p partial monosomy syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
8p partial monosomy syndrome	Associated morphology	Deletion of short arm	true	Inferred relationship	Some	2
8p partial monosomy syndrome	Is a	Deletion of part of chromosome 8 (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
8p23.1 microdeletion syndrome (disorder)	Is a	True	8p partial monosomy syndrome	Inferred relationship	Some
8p11.2 deletion syndrome (disorder)	Is a	True	8p partial monosomy syndrome	Inferred relationship	Some
Distal deletion of short arm of chromosome 8 (disorder)	Is a	True	8p partial monosomy syndrome	Inferred relationship	Some
Proximal deletion of short arm of chromosome 8 (disorder)	Is a	True	8p partial monosomy syndrome	Inferred relationship	Some

This concept is not in any reference sets