890127007: 7p21.1-deletiesyndroom (aandoening)

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

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

\Congenital malformation\7p21.1 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 7 (disorder)\7p partial monosomy (disorder)\7p21.1 deletion syndrome

\Anomaly of chromosome pair 7\Deletion of part of chromosome 7 (disorder)\7p partial monosomy (disorder)\7p21.1 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 7 (disorder)\7p partial monosomy (disorder)\7p21.1 deletion syndrome

\Anomaly of chromosome pair 7\Deletion of part of chromosome 7 (disorder)\7p partial monosomy (disorder)\7p21.1 deletion syndrome

\Developmental disorder\Congenital malformation\7p21.1 deletion syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4009219010 7p21.1 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4009220016 7p21.1 deletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

11963491000146119 7p21.1-deletiesyndroom (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11963501000146112 7p21.1-deletiesyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12270871000146119 7p21.1DS nl Synonym (core metadata concept) Active Only initial character 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
7p21.1 deletion syndrome	Is a	Distal monosomy 7p syndrome (disorder)	false	Inferred relationship	Some
7p21.1 deletion syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
7p21.1 deletion syndrome	Finding site	Chromosome pair 7	true	Inferred relationship	Some	1
7p21.1 deletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
7p21.1 deletion syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
7p21.1 deletion syndrome	Finding site	Chromosome pair 7	false	Inferred relationship	Some	2
7p21.1 deletion syndrome	Associated morphology	Deletion of short arm	false	Inferred relationship	Some	2
7p21.1 deletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
7p21.1 deletion syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
7p21.1 deletion syndrome	Finding site	Short arm of chromosome	true	Inferred relationship	Some	2
7p21.1 deletion syndrome	Is a	7p partial monosomy (disorder)	true	Inferred relationship	Some
7p21.1 deletion syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
7p21.1 deletion syndrome	Is a	Congenital malformation	true	Inferred relationship	Some

Inbound Relationships

Type

Active

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Characteristic

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Group

This concept is not in any reference sets