FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

726394000: Deletion of short arm of chromosome 19 (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
3448857018 Deletion of short arm of chromosome 19 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3448858011 Deletion of short arm of chromosome 19 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5905501000241113 délétion du bras court du chromosome 19 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 short arm of chromosome 19 (disorder) Is a Deletion of part of chromosome 19 (disorder) true Inferred relationship Some
Deletion of short arm of chromosome 19 (disorder) Associated morphology Deletion of short arm true Inferred relationship Some 2
Deletion of short arm of chromosome 19 (disorder) Occurrence Congenital true Inferred relationship Some 2
Deletion of short arm of chromosome 19 (disorder) Finding site Short arm of chromosome false Inferred relationship Some 2
Deletion of short arm of chromosome 19 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 3
Deletion of short arm of chromosome 19 (disorder) Occurrence Congenital true Inferred relationship Some 3
Deletion of short arm of chromosome 19 (disorder) Finding site Chromosome pair 19 true Inferred relationship Some 3
Deletion of short arm of chromosome 19 (disorder) Finding site Chromosome pair 19 true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation). Is a True Deletion of short arm of chromosome 19 (disorder) Inferred relationship Some
Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation). Is a True Deletion of short arm of chromosome 19 (disorder) Inferred relationship Some
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. Is a True Deletion of short arm of chromosome 19 (disorder) Inferred relationship Some

This concept is not in any reference sets

Back to Start