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726385006: deletie van gedeelte van chromosoom 14 (aandoening)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3448839019 Deletion of part of chromosome 14 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3448840017 Deletion of part of chromosome 14 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
7878391000146119 deletie van gedeelte van chromosoom 14 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7878401000146116 deletie van gedeelte van chromosoom 14 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8775721000146115 partiële deletie van chromosoom 14 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deletion of part of chromosome 14 (disorder) Is a Anomaly of chromosome pair 14 true Inferred relationship Some
Deletion of part of chromosome 14 (disorder) Is a Deletion of part of autosome true Inferred relationship Some
Deletion of part of chromosome 14 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
Deletion of part of chromosome 14 (disorder) Occurrence Congenital true Inferred relationship Some 1
Deletion of part of chromosome 14 (disorder) Finding site Chromosome pair 14 true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
14q11.2 microdeletion syndrome (disorder) Is a False Deletion of part of chromosome 14 (disorder) Inferred relationship Some
14q12 microdeletion syndrome (disorder) Is a False Deletion of part of chromosome 14 (disorder) Inferred relationship Some
Distal monosomy 14q syndrome (disorder) Is a False Deletion of part of chromosome 14 (disorder) Inferred relationship Some
14q22q23 microdeletion syndrome Is a False Deletion of part of chromosome 14 (disorder) Inferred relationship Some
14q24.1q24.3 microdeletion syndrome Is a False Deletion of part of chromosome 14 (disorder) Inferred relationship Some
14q32 deletion syndrome Is a False Deletion of part of chromosome 14 (disorder) Inferred relationship Some
Distal deletion of chromosome 14 (disorder) Is a True Deletion of part of chromosome 14 (disorder) Inferred relationship Some
Paternal 14q32.2 microdeletion (disorder) Is a False Deletion of part of chromosome 14 (disorder) Inferred relationship Some
Medial deletion of chromosome 14 Is a True Deletion of part of chromosome 14 (disorder) Inferred relationship Some
Proximal deletion of chromosome 14 Is a True Deletion of part of chromosome 14 (disorder) Inferred relationship Some
Partial deletion of long arm of chromosome 14 (disorder) Is a True Deletion of part of chromosome 14 (disorder) Inferred relationship Some

This concept is not in any reference sets

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