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1162463004: Partial duplication 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
4589479014 Partial duplication of long arm of chromosome 15 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4589480012 Partial duplication of long arm of chromosome 15 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6973021000241119 duplication partielle du bras long du chromosome 15 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
Partial duplication of long arm of chromosome 15 (disorder) Is a Partial trisomy of chromosome 15 (disorder) true Inferred relationship Some
Partial duplication of long arm of chromosome 15 (disorder) Occurrence Congenital true Inferred relationship Some 1
Partial duplication of long arm of chromosome 15 (disorder) Finding site Long arm of chromosome true Inferred relationship Some 1
Partial duplication of long arm of chromosome 15 (disorder) Associated morphology Partial trisomy true Inferred relationship Some 1
Partial duplication of long arm of chromosome 15 (disorder) Occurrence Congenital true Inferred relationship Some 2
Partial duplication of long arm of chromosome 15 (disorder) Finding site Chromosome pair 15 true Inferred relationship Some 2
Partial duplication of long arm of chromosome 15 (disorder) Associated morphology Partial trisomy true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
15q13.3 microduplication syndrome (disorder) Is a True Partial duplication of long arm of chromosome 15 (disorder) Inferred relationship Some
A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly. Is a True Partial duplication of long arm of chromosome 15 (disorder) Inferred relationship Some
The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown. Is a True Partial duplication of long arm of chromosome 15 (disorder) Inferred relationship Some

This concept is not in any reference sets

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