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

726386007: Deletion of part of chromosome 15 (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
3448841018 Deletion of part of chromosome 15 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3448842013 Deletion of part of chromosome 15 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5936731000241110 monosomie partielle du chromosome 15 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5936741000241117 délétion partielle du chromosome 15 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

8 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deletion of part of chromosome 15 (disorder) Is a Anomaly of chromosome pair 15 true Inferred relationship Some
Deletion of part of chromosome 15 (disorder) Is a Deletion of part of autosome true Inferred relationship Some
Deletion of part of chromosome 15 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
Deletion of part of chromosome 15 (disorder) Occurrence Congenital true Inferred relationship Some 1
Deletion of part of chromosome 15 (disorder) Finding site Chromosome pair 15 true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
15q partial monosomy syndrome Is a False Deletion of part of chromosome 15 (disorder) Inferred relationship Some
15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism. Is a False Deletion of part of chromosome 15 (disorder) Inferred relationship Some
Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (including microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported. Is a False Deletion of part of chromosome 15 (disorder) Inferred relationship Some
15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia). Is a False Deletion of part of chromosome 15 (disorder) Inferred relationship Some
Distal deletion of chromosome 15 (disorder) Is a True Deletion of part of chromosome 15 (disorder) Inferred relationship Some
Proximal deletion of chromosome 15 Is a True Deletion of part of chromosome 15 (disorder) Inferred relationship Some
Partial deletion of long arm of chromosome 15 (disorder) Is a True Deletion of part of chromosome 15 (disorder) Inferred relationship Some

This concept is not in any reference sets

Back to Start