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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
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 (disorder) Is a Partial trisomy of chromosome 16 true Inferred relationship Some
Duplication of part of short arm of chromosome 16 (disorder) Occurrence Congenital true Inferred relationship Some 1
Duplication of part of short arm of chromosome 16 (disorder) Finding site Short arm of chromosome true Inferred relationship Some 1
Duplication of part of short arm of chromosome 16 (disorder) Associated morphology Partial trisomy true Inferred relationship Some 1
Duplication of part of short arm of chromosome 16 (disorder) Occurrence Congenital true Inferred relationship Some 2
Duplication of part of short arm of chromosome 16 (disorder) Finding site Chromosome pair 16 true Inferred relationship Some 2
Duplication of part of short arm of chromosome 16 (disorder) Associated morphology Partial trisomy true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life. Is a True Duplication of part of short arm of chromosome 16 (disorder) Inferred relationship Some
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 (disorder) Inferred relationship Some
16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems. Is a True Duplication of part of short arm of chromosome 16 (disorder) Inferred relationship Some
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 (disorder) Inferred relationship Some

This concept is not in any reference sets

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