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699306003: Chromosome 1p36 deletion 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 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)

\Congenital disease (disorder)\Congenital malformation\Chromosome 1p36 deletion syndrome (disorder)
\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 1 (disorder)\1p partial monosomy\Chromosome 1p36 deletion syndrome (disorder)
\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\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:

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

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
7912321000172111	syndrome de délétion 1p36	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7912331000172114	délétion subtélomérique 1p36	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7912341000172119	monosomie 1p36	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4607391000172119	1p36DS	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4607401000172117	1p36-deletiesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4607411000172119	syndroom van deletie van chromosoom 1 (1p36)	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)