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70173007: 5p 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 5 (disorder)\Partial deletion of short arm of chromosome 5\5p partial monosomy syndrome

\Anomaly of chromosome pair 5\Deletion of part of chromosome 5 (disorder)\Partial deletion of short arm of chromosome 5\5p partial monosomy syndrome

\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\5p 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 5 (disorder)\Partial deletion of short arm of chromosome 5\5p partial monosomy syndrome
\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 5\Deletion of part of chromosome 5 (disorder)\Partial deletion of short arm of chromosome 5\5p partial monosomy syndrome

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\5p partial monosomy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
5p partial monosomy syndrome	Is a	Anomaly of chromosome pair 5	false	Inferred relationship	Some
5p partial monosomy syndrome	Is a	Deletion of part of autosome	false	Inferred relationship	Some
5p partial monosomy syndrome	Finding site	Chromosome pair 5	false	Inferred relationship	Some	1
5p partial monosomy syndrome	Occurrence	Congenital	false	Inferred relationship	Some
5p partial monosomy syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
5p partial monosomy syndrome	Associated morphology	Deletion of short arm	false	Inferred relationship	Some
5p partial monosomy syndrome	Associated morphology	Monosomy	false	Inferred relationship	Some
5p partial monosomy syndrome	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
5p partial monosomy syndrome	Associated morphology	kongenital anomali	false	Inferred relationship	Some
5p partial monosomy syndrome	Finding site	Chromosome pair 5	false	Inferred relationship	Some	1
5p partial monosomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
5p partial monosomy syndrome	Finding site	Chromosome pair 5	true	Inferred relationship	Some	1
5p partial monosomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
5p partial monosomy syndrome	Finding site	Chromosome pair 5	false	Inferred relationship	Some	2
5p partial monosomy syndrome	Associated morphology	Deletion of short arm	false	Inferred relationship	Some	1
5p partial monosomy syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
5p partial monosomy syndrome	Is a	Deletion of part of chromosome 5 (disorder)	false	Inferred relationship	Some
5p partial monosomy syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
5p partial monosomy syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
5p partial monosomy syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
5p partial monosomy syndrome	Finding site	Short arm of chromosome	true	Inferred relationship	Some	2
5p partial monosomy syndrome	Is a	Partial deletion of short arm of chromosome 5	true	Inferred relationship	Some
5p partial monosomy syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
116546014	5p partial monosomy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
116547017	Cri du chat syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
116548010	Lejeune syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
116549019	5p minus syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
116550019	Partial deletion of short arm of chromosome 5 syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
810200013	5p partial monosomy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2478801000052111	partiellt monosomi 5p-syndrom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)