1162488007: Duplication of part of long arm of chromosome 16 (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Fetal and/or neonatal disorder\Congenital disease\Congenital chromosomal disease\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 16\Partial trisomy of chromosome 16\Duplication of part of long arm of chromosome 16 (disorder)

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 16\Duplication of part of long arm of chromosome 16 (disorder)

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 16\Duplication of part of long arm of chromosome 16 (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 16\Duplication of part of long arm of chromosome 16 (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 16\Partial trisomy of chromosome 16\Duplication of part of long arm of chromosome 16 (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 16\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

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

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	Some
Duplication of part of long arm of chromosome 16 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Duplication of part of long arm of chromosome 16 (disorder)	Finding site	Long arm of chromosome	true	Inferred relationship	Some	1
Duplication of part of long arm of chromosome 16 (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Duplication of part of long arm of chromosome 16 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Duplication of part of long arm of chromosome 16 (disorder)	Finding site	Chromosome pair 16	true	Inferred relationship	Some	2
Duplication of part of long arm of chromosome 16 (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	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	Some
Proximal duplication of long arm of chromosome 16 (disorder)	Is a	True	Duplication of part of long arm of chromosome 16 (disorder)	Inferred relationship	Some

This concept is not in any reference sets