FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

1162460001: Partial deletion of long arm of chromosome 15 (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4589466017 Partial deletion of long arm of chromosome 15 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4589467014 Partial deletion of long arm of chromosome 15 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
Partial deletion of long arm of chromosome 15 (disorder) Is a Deletion of part of chromosome 15 (disorder) true Inferred relationship Some
Partial deletion of long arm of chromosome 15 (disorder) Occurrence Congenital true Inferred relationship Some 1
Partial deletion of long arm of chromosome 15 (disorder) Finding site Long arm of chromosome true Inferred relationship Some 1
Partial deletion of long arm of chromosome 15 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
Partial deletion of long arm of chromosome 15 (disorder) Occurrence Congenital true Inferred relationship Some 2
Partial deletion of long arm of chromosome 15 (disorder) Finding site Chromosome pair 15 true Inferred relationship Some 2
Partial deletion of long arm of chromosome 15 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
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 True Partial deletion of long arm of chromosome 15 (disorder) Inferred relationship Some
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 True Partial deletion of long arm 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 True Partial deletion of long arm of chromosome 15 (disorder) Inferred relationship Some
15q13.3 microdeletion Is a True Partial deletion of long arm of chromosome 15 (disorder) Inferred relationship Some
15q24 microdeletion Is a True Partial deletion of long arm of chromosome 15 (disorder) Inferred relationship Some

This concept is not in any reference sets

Back to Start