699306003: Chromosome 1p36 deletion syndrome (disorder)

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\...

\Congenital malformation\Chromosome 1p36 deletion syndrome (disorder)

\Congenital chromosomal disease\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 1 (disorder)\1p partial monosomy\Chromosome 1p36 deletion syndrome (disorder)

\Anomaly of chromosome pair 1\Deletion of part of chromosome 1 (disorder)\1p partial monosomy\Chromosome 1p36 deletion syndrome (disorder)

\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 1 (disorder)\1p partial monosomy\Chromosome 1p36 deletion syndrome (disorder)

\Anomaly of chromosome pair 1\Deletion of part of chromosome 1 (disorder)\1p partial monosomy\Chromosome 1p36 deletion syndrome (disorder)

\Developmental disorder\Congenital malformation\Chromosome 1p36 deletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2983611014 Distal monosomy 1p36 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2983665014 Monosomy 1p36 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2983669015 Chromosome 1p36 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2983672010 Chromosome 1p36 deletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2983739016 1p36 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chromosome 1p36 deletion syndrome (disorder)	Is a	Anomaly of chromosome pair 1	false	Inferred relationship	Some
Chromosome 1p36 deletion syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Chromosome 1p36 deletion syndrome (disorder)	Associated morphology	Congenital anomaly	false	Inferred relationship	Some
Chromosome 1p36 deletion syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Chromosome 1p36 deletion syndrome (disorder)	Finding site	Chromosome pair 1	false	Inferred relationship	Some	1
Chromosome 1p36 deletion syndrome (disorder)	Is a	Deletion of part of autosome	false	Inferred relationship	Some
Chromosome 1p36 deletion syndrome (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
Chromosome 1p36 deletion syndrome (disorder)	Is a	Deletion of part of chromosome 1 (disorder)	false	Inferred relationship	Some
Chromosome 1p36 deletion syndrome (disorder)	Is a	1p partial monosomy	true	Inferred relationship	Some
Chromosome 1p36 deletion syndrome (disorder)	Associated morphology	Deletion of short arm	false	Inferred relationship	Some	2
Chromosome 1p36 deletion syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Chromosome 1p36 deletion syndrome (disorder)	Finding site	Chromosome pair 1	true	Inferred relationship	Some	2
Chromosome 1p36 deletion syndrome (disorder)	Finding site	Short arm of chromosome	true	Inferred relationship	Some	1
Chromosome 1p36 deletion syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Chromosome 1p36 deletion syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Chromosome 1p36 deletion syndrome (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
Chromosome 1p36 deletion syndrome (disorder)	Is a	Congenital malformation	true	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets