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726360002: Partial trisomy 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
3498327017 Partial trisomy of chromosome 20 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498328010 Duplication of chromosome 20 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498329019 Partial trisomy of chromosome 20 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498327017 Partial trisomy of chromosome 20 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498328010 Duplication of chromosome 20 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498329019 Partial trisomy of chromosome 20 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
902941000172119 duplication partielle du chromosome 20 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1019021000172114 trisomie partielle du chromosome 20 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
902941000172119 duplication partielle du chromosome 20 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1019021000172114 trisomie partielle du chromosome 20 fr Synonym (core metadata concept) Active Entire term case insensitive (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
Partial trisomy of chromosome 20 (disorder) Is a Anomaly of chromosome pair 20 true Inferred relationship Existential restriction modifier (core metadata concept)
Partial trisomy of chromosome 20 (disorder) Is a Trisomy and partial trisomy of autosome true Inferred relationship Existential restriction modifier (core metadata concept)
Partial trisomy of chromosome 20 (disorder) Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy of chromosome 20 (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy of chromosome 20 (disorder) Finding site Chromosome pair 20 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
20q partial trisomy (disorder) Is a True Partial trisomy of chromosome 20 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Disorder resulting from duplication of all or part of the short arm of chromosome 20 with characteristics of normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features. The chromosomal anomaly may occur de novo, but most reported cases arise from a reciprocal translocation or, as described in a few cases, a parental inversion. Is a True Partial trisomy of chromosome 20 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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