702357000: Chromosome 2q37 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 2 (disorder)\Deletion of part of long arm of chromosome 2 (disorder)\Chromosome 2q37 deletion syndrome

\Anomaly of chromosome pair 2\Deletion of part of chromosome 2 (disorder)\Deletion of part of long arm of chromosome 2 (disorder)\Chromosome 2q37 deletion syndrome

\Congenital disease (disorder)\Congenital malformation\Chromosome 2q37 deletion 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 2 (disorder)\Deletion of part of long arm of chromosome 2 (disorder)\Chromosome 2q37 deletion syndrome
\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 2\Deletion of part of chromosome 2 (disorder)\Deletion of part of long arm of chromosome 2 (disorder)\Chromosome 2q37 deletion syndrome

\Developmental disorder\Congenital malformation\Chromosome 2q37 deletion syndrome

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chromosome 2q37 deletion syndrome	Is a	Anomaly of chromosome pair 2	false	Inferred relationship	Some
Chromosome 2q37 deletion syndrome	Is a	Multisystem disorder	false	Inferred relationship	Some
Chromosome 2q37 deletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Chromosome 2q37 deletion syndrome	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
Chromosome 2q37 deletion syndrome	Finding site	Chromosome pair 2	true	Inferred relationship	Some	1
Chromosome 2q37 deletion syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Chromosome 2q37 deletion syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Chromosome 2q37 deletion syndrome	Is a	Deletion of part of long arm of chromosome 2 (disorder)	true	Inferred relationship	Some
Chromosome 2q37 deletion syndrome	Is a	Congenital malformation	true	Inferred relationship	Some
Chromosome 2q37 deletion syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
Chromosome 2q37 deletion syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Chromosome 2q37 deletion syndrome	Finding site	Chromosome pair 2	false	Inferred relationship	Some	2
Chromosome 2q37 deletion syndrome	Associated morphology	Deletion of long arm	false	Inferred relationship	Some	2
Chromosome 2q37 deletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Chromosome 2q37 deletion syndrome	Finding site	Long arm of chromosome	true	Inferred relationship	Some	2
Chromosome 2q37 deletion syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
2995103015	Chromosome 2q37 deletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995117012	2q37 deletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995538014	Chromosome 2q37 deletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995577012	Brachydactyly mental retardation syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995787014	Albright hereditary osteodystrophy-like syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
10042571000172113	monosomie 2q37	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
10042581000172111	syndrome de délétion du chromosome 2q37	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
10042591000172114	syndrome de brachydactylie et déficience intellectuelle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5027611000172112	syndroom van brachydactylie en intellectuele achterstand	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5027621000172119	hereditaire osteodystrofie van Albright-achtig syndroom	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5027631000172116	syndroom van brachydactylie en mentale retardatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5027641000172111	2q37-deletiesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5027651000172113	syndroom van brachydactylie en verstandelijke beperking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5027661000172110	monosomie 2q37	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)