702357000: 2q37-deletiesyndroom (aandoening)

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

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

\Congenital malformation\Chromosome 2q37 deletion syndrome

\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

\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

\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:

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

6799271000146113 2q37-deletiesyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6799281000146110 syndroom van brachydactylie en intellectuele achterstand nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6799291000146112 2q37-deletiesyndroom (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6799301000146111 syndroom van brachydactylie en verstandelijke beperking nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6799311000146113 hereditaire osteodystrofie van Albright-achtig syndroom nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6799321000146115 syndroom van brachydactylie en mentale retardatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6799331000146118 monosomie 2q37 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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	multisysteemaandoening	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