890128002: 9p24.3-deletiesyndroom (aandoening)

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

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

\Congenital malformation\9p24.3 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 9 (disorder)\Distal monosomy 9p syndrome (disorder)\9p24.3 deletion syndrome (disorder)

\Anomaly of chromosome pair 9\Deletion of part of chromosome 9 (disorder)\Distal monosomy 9p syndrome (disorder)\9p24.3 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 9 (disorder)\Distal monosomy 9p syndrome (disorder)\9p24.3 deletion syndrome (disorder)

\Anomaly of chromosome pair 9\Deletion of part of chromosome 9 (disorder)\Distal monosomy 9p syndrome (disorder)\9p24.3 deletion syndrome (disorder)

\Developmental disorder\Congenital malformation\9p24.3 deletion syndrome (disorder)

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

4009221017 9p24.3 deletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4009222012 9p24.3 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

11963511000146114 9p24.3-deletiesyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11963521000146116 9p24.3-deletiesyndroom (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12270911000146117 9p24.3DS 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
9p24.3 deletion syndrome (disorder)	Is a	Congenital malformation	true	Inferred relationship	Some
9p24.3 deletion syndrome (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
9p24.3 deletion syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
9p24.3 deletion syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
9p24.3 deletion syndrome (disorder)	Associated morphology	Deletion of short arm	true	Inferred relationship	Some	2
9p24.3 deletion syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
9p24.3 deletion syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
9p24.3 deletion syndrome (disorder)	Is a	Distal monosomy 9p syndrome (disorder)	true	Inferred relationship	Some
9p24.3 deletion syndrome (disorder)	Finding site	Chromosome pair 9	true	Inferred relationship	Some	1
9p24.3 deletion syndrome (disorder)	Finding site	Chromosome pair 9	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets