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1162487002: Duplication of part of short 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
4589772018 Duplication of part of short arm of chromosome 16 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4589774017 Duplication of part of short arm of chromosome 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4589775016 Partial duplication of short arm of chromosome 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4589772018 Duplication of part of short arm of chromosome 16 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4589774017 Duplication of part of short arm of chromosome 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4589775016 Partial duplication of short arm of chromosome 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6038091000241115 duplication partielle du bras court du chromosome 16 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6038101000241112 duplication partielle du chromosome 16p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6038111000241114 trisomie partielle du bras court du chromosome 16 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6038091000241115 duplication partielle du bras court du chromosome 16 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6038101000241112 duplication partielle du chromosome 16p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6038111000241114 trisomie partielle du bras court du chromosome 16 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Duplication of part of short arm of chromosome 16 Is a Partial trisomy of chromosome 16 true Inferred relationship Existential restriction modifier (core metadata concept)
Duplication of part of short arm of chromosome 16 Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Duplication of part of short arm of chromosome 16 Finding site Short arm of chromosome true Inferred relationship Existential restriction modifier (core metadata concept) 1
Duplication of part of short arm of chromosome 16 Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Duplication of part of short arm of chromosome 16 Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Duplication of part of short arm of chromosome 16 Finding site Chromosome pair 16 (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Duplication of part of short arm of chromosome 16 Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Proximal 16p11.2 microduplication syndrome (disorder) Is a True Duplication of part of short arm of chromosome 16 Inferred relationship Existential restriction modifier (core metadata concept)
16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. Is a True Duplication of part of short arm of chromosome 16 Inferred relationship Existential restriction modifier (core metadata concept)
16p13.3 microduplication syndrome Is a True Duplication of part of short arm of chromosome 16 Inferred relationship Existential restriction modifier (core metadata concept)
16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behavior, behavioral problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described. Is a True Duplication of part of short arm of chromosome 16 Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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