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270889005: Deletion of long arm of chromosome 18 (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
405346013 Deletion of long arm of chromosome 18 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
405347016 18q- syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
663271013 Deletion of long arm of chromosome 18 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
405346013 Deletion of long arm of chromosome 18 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
405346013 Deletion of long arm of chromosome 18 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
405347016 18q- syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
663271013 Deletion of long arm of chromosome 18 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
663271013 Deletion of long arm of chromosome 18 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3393061001000111 Monosomie 18q de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5110821000241111 syndrome de délétion du bras long du chromosome 18 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5110821000241111 syndrome de délétion du bras long du chromosome 18 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3393061001000111 Monosomie 18q de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deletion of long arm of chromosome 18 (disorder) Is a Deletion of part of autosome false Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of long arm of chromosome 18 (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of long arm of chromosome 18 (disorder) Associated morphology Alteration of chromosome structure false Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of long arm of chromosome 18 (disorder) Finding site Chromosome structure (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of long arm of chromosome 18 (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of long arm of chromosome 18 (disorder) Finding site Chromosome structure (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of long arm of chromosome 18 (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of long arm of chromosome 18 (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of long arm of chromosome 18 (disorder) Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of long arm of chromosome 18 (disorder) Finding site Chromosome false Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of long arm of chromosome 18 (disorder) Is a Deletion of part of chromosome 18 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of long arm of chromosome 18 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of long arm of chromosome 18 (disorder) Finding site Chromosome pair 18 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of long arm of chromosome 18 (disorder) Finding site Chromosome pair 18 true Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of long arm of chromosome 18 (disorder) Associated morphology Deletion of long arm true Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of long arm of chromosome 18 (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group
18q partial monosomy syndrome Is a True Deletion of long arm of chromosome 18 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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