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1153430004: Partial deletion of long arm of chromosome 14 (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4564290013 Partial deletion of chromosome 14q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4564291012 Partial deletion of long arm of chromosome 14 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4564292017 Partial deletion of long arm of chromosome 14 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core


7 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Partial deletion of long arm of chromosome 14 (disorder) Occurrence Congenital true Inferred relationship Some 2
Partial deletion of long arm of chromosome 14 (disorder) Is a Deletion of part of chromosome 14 (disorder) true Inferred relationship Some
Partial deletion of long arm of chromosome 14 (disorder) Finding site Long arm of chromosome true Inferred relationship Some 1
Partial deletion of long arm of chromosome 14 (disorder) Occurrence Congenital true Inferred relationship Some 1
Partial deletion of long arm of chromosome 14 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
Partial deletion of long arm of chromosome 14 (disorder) Finding site Chromosome pair 14 true Inferred relationship Some 2
Partial deletion of long arm of chromosome 14 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
14q22q23 microdeletion syndrome Is a True Partial deletion of long arm of chromosome 14 (disorder) Inferred relationship Some
14q11.2 microdeletion syndrome (disorder) Is a True Partial deletion of long arm of chromosome 14 (disorder) Inferred relationship Some
14q24.1q24.3 microdeletion syndrome Is a True Partial deletion of long arm of chromosome 14 (disorder) Inferred relationship Some
14q12 microdeletion syndrome (disorder) Is a True Partial deletion of long arm of chromosome 14 (disorder) Inferred relationship Some
14q32 deletion syndrome Is a True Partial deletion of long arm of chromosome 14 (disorder) Inferred relationship Some
Distal monosomy 14q syndrome (disorder) Is a True Partial deletion of long arm of chromosome 14 (disorder) Inferred relationship Some
Paternal 14q32.2 microdeletion (disorder) Is a True Partial deletion of long arm of chromosome 14 (disorder) Inferred relationship Some

This concept is not in any reference sets

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