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726396003: Deletion of part of long arm of chromosome 20 (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
3467371010 Deletion of part of long arm of chromosome 20 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3467372015 Deletion of part of long arm of chromosome 20 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3467371010 Deletion of part of long arm of chromosome 20 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3467372015 Deletion of part of long arm of chromosome 20 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5996501000241116 délétion partielle du bras long du chromosome 20 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5996511000241119 délétion partielle du chromosome 20q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5996521000241114 monosomie partielle du bras long du chromosome 20 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5996501000241116 délétion partielle du bras long du chromosome 20 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5996511000241119 délétion partielle du chromosome 20q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5996521000241114 monosomie partielle du bras long du chromosome 20 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 part of long arm of chromosome 20 (disorder) Is a Deletion of part of chromosome 20 true Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of long arm of chromosome 20 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of long arm of chromosome 20 (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of long arm of chromosome 20 (disorder) Finding site Chromosome pair 20 true Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of long arm of chromosome 20 (disorder) Associated morphology Deletion of long arm false Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of part of long arm of chromosome 20 (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of part of long arm of chromosome 20 (disorder) Finding site Chromosome pair 20 false Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of part of long arm of chromosome 20 (disorder) Finding site Long arm of chromosome (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of long arm of chromosome 20 (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of long arm of chromosome 20 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Paternal 20q13.2q13.3 microdeletion syndrome (disorder) Is a True Deletion of part of long arm of chromosome 20 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated. Is a True Deletion of part of long arm of chromosome 20 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Monosomie 14q, distale Is a False Deletion of part of long arm of chromosome 20 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
20q11.2 microdeletion syndrome (disorder) Is a True Deletion of part of long arm of chromosome 20 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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