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726398002: Deletion of part of chromosome 21 (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
3463894016 Deletion of part of chromosome 21 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3463895015 Deletion of part of chromosome 21 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3463894016 Deletion of part of chromosome 21 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3463895015 Deletion of part of chromosome 21 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5855881000241119 délétion d'une partie du chromosome 21 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5855891000241117 délétion partielle du chromosome 21 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5855881000241119 délétion d'une partie du chromosome 21 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5855891000241117 délétion partielle du chromosome 21 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deletion of part of chromosome 21 (disorder) Is a Anomaly of chromosome pair 21 true Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 21 (disorder) Is a Deletion of part of autosome true Inferred relationship Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 21 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of chromosome 21 (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of chromosome 21 (disorder) Finding site Chromosome pair 21 true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
21q partial monosomy syndrome (disorder) Is a True Deletion of part of chromosome 21 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic intellectual disability with characteristics of global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioural issues, stereotypic behaviour, febrile seizures and epilepsy, abnormal gait, vision defects and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present. Is a True Deletion of part of chromosome 21 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
21q22.11q22.12 microdeletion syndrome Is a False Deletion of part of chromosome 21 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Distal deletion of chromosome 21 Is a True Deletion of part of chromosome 21 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Proximal deletion of chromosome 21 Is a True Deletion of part of chromosome 21 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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