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205630009: Deletion of long arm of chromosome 13 (disorder)

Status: current, 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
315362011 Deletion of long arm of chromosome 13 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
591026010 Deletion of long arm of chromosome 13 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deletion of long arm of chromosome 13 Is a Deletion of part of autosome false Inferred relationship Some
Deletion of long arm of chromosome 13 Associated morphology Alteration of chromosome structure false Inferred relationship Some
Deletion of long arm of chromosome 13 Occurrence Congenital false Inferred relationship Some
Deletion of long arm of chromosome 13 Finding site Chromosome structure false Inferred relationship Some 1
Deletion of long arm of chromosome 13 Associated morphology Congenital anomaly false Inferred relationship Some 1
Deletion of long arm of chromosome 13 Associated morphology Congenital anomaly false Inferred relationship Some
Deletion of long arm of chromosome 13 Finding site Chromosome structure false Inferred relationship Some 1
Deletion of long arm of chromosome 13 Occurrence Congenital true Inferred relationship Some 1
Deletion of long arm of chromosome 13 Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Some 1
Deletion of long arm of chromosome 13 Finding site Chromosome false Inferred relationship Some 1
Deletion of long arm of chromosome 13 Is a Deletion of part of chromosome 13 (disorder) true Inferred relationship Some
Deletion of long arm of chromosome 13 Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
Deletion of long arm of chromosome 13 Finding site Chromosome pair 13 true Inferred relationship Some 1
Deletion of long arm of chromosome 13 Associated morphology Deletion of long arm false Inferred relationship Some 2
Deletion of long arm of chromosome 13 Finding site Chromosome pair 13 false Inferred relationship Some 2
Deletion of long arm of chromosome 13 Occurrence Congenital true Inferred relationship Some 2
Deletion of long arm of chromosome 13 Finding site Long arm of chromosome true Inferred relationship Some 2
Deletion of long arm of chromosome 13 Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
13q partial monosomy syndrome (disorder) Is a True Deletion of long arm of chromosome 13 Inferred relationship Some
Distal monosomy 13q syndrome Is a True Deletion of long arm of chromosome 13 Inferred relationship Some
Monosomy 13q14 syndrome Is a True Deletion of long arm of chromosome 13 Inferred relationship Some
Monosomy 13q34 syndrome (disorder) Is a True Deletion of long arm of chromosome 13 Inferred relationship Some
13q12.3 microdeletion syndrome (disorder) Is a True Deletion of long arm of chromosome 13 Inferred relationship Some

This concept is not in any reference sets

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