890130000: 9q34 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 9 (disorder)\9q partial monosomy syndrome\9q34 deletion syndrome (disorder)

\Anomaly of chromosome pair 9\Deletion of part of chromosome 9 (disorder)\9q partial monosomy syndrome\9q34 deletion syndrome (disorder)

\Congenital disease (disorder)\Congenital malformation\9q34 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 9 (disorder)\9q partial monosomy syndrome\9q34 deletion syndrome (disorder)
\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 9\Deletion of part of chromosome 9 (disorder)\9q partial monosomy syndrome\9q34 deletion syndrome (disorder)

\Developmental disorder\Congenital malformation\9q34 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

4009226010 9q34 deletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4009227018 9q34 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4823631000052110 9q34-deletionssyndromet sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
9q34 deletion syndrome (disorder)	Is a	9q partial monosomy syndrome	true	Inferred relationship	Some
9q34 deletion syndrome (disorder)	Is a	Congenital malformation	true	Inferred relationship	Some
9q34 deletion syndrome (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
9q34 deletion syndrome (disorder)	Finding site	Chromosome pair 9	true	Inferred relationship	Some	1
9q34 deletion syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
9q34 deletion syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
9q34 deletion syndrome (disorder)	Finding site	Chromosome pair 9	true	Inferred relationship	Some	2
9q34 deletion syndrome (disorder)	Associated morphology	Deletion of long arm	true	Inferred relationship	Some	2
9q34 deletion syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
9q34 deletion syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2

Inbound Relationships

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Active

Source

Characteristic

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Group

This concept is not in any reference sets