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726394000: Deletion of short arm of chromosome 19 (disorder)


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
3448857018 Deletion of short arm of chromosome 19 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3448858011 Deletion of short arm of chromosome 19 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3448857018 Deletion of short arm of chromosome 19 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3448858011 Deletion of short arm of chromosome 19 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5905501000241113 délétion du bras court du chromosome 19 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5905501000241113 délétion du bras court du chromosome 19 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


3 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deletion of short arm of chromosome 19 (disorder) Is a Deletion of part of chromosome 19 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of short arm of chromosome 19 (disorder) Associated morphology Deletion of short arm true Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of short arm of chromosome 19 (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of short arm of chromosome 19 (disorder) Finding site Short arm of chromosome false Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of short arm of chromosome 19 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of short arm of chromosome 19 (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of short arm of chromosome 19 (disorder) Finding site Chromosome pair 19 true Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of short arm of chromosome 19 (disorder) Finding site Chromosome pair 19 true Inferred relationship Existential restriction modifier (core metadata concept) 2

Inbound Relationships Type Active Source Characteristic Refinability Group
19p13.13 microdeletion syndrome (disorder) Is a True Deletion of short arm of chromosome 19 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Distal monosomy 19p13.3 Is a True Deletion of short arm of chromosome 19 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. Is a True Deletion of short arm of chromosome 19 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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