FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.3  |  FHIR Version n/a  User: [n/a]

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

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 Some
Deletion of part of chromosome 21 (disorder) Is a Deletion of part of autosome true Inferred relationship Some
Deletion of part of chromosome 21 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
Deletion of part of chromosome 21 (disorder) Occurrence Congenital true Inferred relationship Some 1
Deletion of part of chromosome 21 (disorder) Finding site Chromosome pair 21 true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
21q partial monosomy syndrome Is a True Deletion of part of chromosome 21 (disorder) Inferred relationship Some
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 Some
A rare genetic chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21. The disease has characteristics of pre and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia and craniofacial dysmorphism which may include microcephaly, downslanted palpebral fissures, low-set ears, broad nose, thin upper vermillion and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum) behavioural problems and seizures may be associated. Is a False Deletion of part of chromosome 21 (disorder) Inferred relationship Some
Distal deletion of chromosome 21 Is a True Deletion of part of chromosome 21 (disorder) Inferred relationship Some
Proximal deletion of chromosome 21 (disorder) Is a True Deletion of part of chromosome 21 (disorder) Inferred relationship Some

This concept is not in any reference sets

Back to Start