699254009: Microdeletion of chromosome 15q13.3 (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 15 (disorder)\Partial deletion of long arm of chromosome 15 (disorder)\15q13.3 microdeletion

\Anomaly of chromosome pair 15\Deletion of part of chromosome 15 (disorder)\Partial deletion of long arm of chromosome 15 (disorder)\15q13.3 microdeletion

\Developmental disorder\Congenital malformation\15q13.3 microdeletion

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

Descriptions:

Id Description Lang Type Status Case? Module

2983307014 15q13.3 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2983429014 15q13.3 microdeletion en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2983673017 Microdeletion of chromosome 15q13.3 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3015079019 Microdeletion of chromosome 15q13.3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3671651000052114 15q13.3-mikrodeletion sv Synonym (core metadata concept) Active Entire term 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
15q13.3 microdeletion	Is a	Anomaly of chromosome pair 15	false	Inferred relationship	Some
15q13.3 microdeletion	Occurrence	Congenital	false	Inferred relationship	Some
15q13.3 microdeletion	Associated morphology	kongenital anomali	false	Inferred relationship	Some
15q13.3 microdeletion	Associated morphology	Deletion of long arm	false	Inferred relationship	Some	2
15q13.3 microdeletion	Occurrence	Congenital	true	Inferred relationship	Some	1
15q13.3 microdeletion	Finding site	Chromosome pair 15	false	Inferred relationship	Some	1
15q13.3 microdeletion	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
15q13.3 microdeletion	Is a	Partial deletion of long arm of chromosome 15 (disorder)	true	Inferred relationship	Some
15q13.3 microdeletion	Is a	Congenital malformation	true	Inferred relationship	Some
15q13.3 microdeletion	Finding site	Long arm of chromosome	true	Inferred relationship	Some	1
15q13.3 microdeletion	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
15q13.3 microdeletion	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
15q13.3 microdeletion	Occurrence	Congenital	true	Inferred relationship	Some	2
15q13.3 microdeletion	Finding site	Chromosome pair 15	true	Inferred relationship	Some	2
15q13.3 microdeletion	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
15q13.3 microdeletion	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2

Inbound Relationships

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This concept is not in any reference sets