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1162488007: Duplication of part of long arm of chromosome 16 (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
4589776015 Duplication of part of long arm of chromosome 16 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4589777012 Partial trisomy of long arm of chromosome 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4589778019 Duplication of part of long arm of chromosome 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4589776015 Duplication of part of long arm of chromosome 16 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4589777012 Partial trisomy of long arm of chromosome 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4589778019 Duplication of part of long arm of chromosome 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6096941000241116 trisomie partielle du bras long du chromosome 16 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6096951000241118 duplication d'une partie du bras long du chromosome 16 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6096941000241116 trisomie partielle du bras long du chromosome 16 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6096951000241118 duplication d'une partie du bras long du chromosome 16 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Duplication of part of long arm of chromosome 16 (disorder) Is a Partial trisomy of chromosome 16 true Inferred relationship Existential restriction modifier (core metadata concept)
Duplication of part of long arm of chromosome 16 (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Duplication of part of long arm of chromosome 16 (disorder) Finding site Long arm of chromosome (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Duplication of part of long arm of chromosome 16 (disorder) Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Duplication of part of long arm of chromosome 16 (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Duplication of part of long arm of chromosome 16 (disorder) Finding site Chromosome pair 16 (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Duplication of part of long arm of chromosome 16 (disorder) Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (including high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported. Is a True Duplication of part of long arm of chromosome 16 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Proximal duplication of long arm of chromosome 16 Is a True Duplication of part of long arm of chromosome 16 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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