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726388008: Deletion of part of short arm of chromosome 16 (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3464778014 Deletion of part of short arm of chromosome 16 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3464779018 Deletion of part of short arm of chromosome 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5876121000241116 délétion 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
5876131000241119 délétion d'une partie 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

8 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deletion of part of short arm of chromosome 16 (disorder) Is a Deletion of part of chromosome 16 (disorder) true Inferred relationship Some
Deletion of part of short arm of chromosome 16 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
Deletion of part of short arm of chromosome 16 (disorder) Occurrence Congenital true Inferred relationship Some 2
Deletion of part of short arm of chromosome 16 (disorder) Finding site Chromosome pair 16 true Inferred relationship Some 2
Deletion of part of short arm of chromosome 16 (disorder) Associated morphology Deletion of short arm false Inferred relationship Some 3
Deletion of part of short arm of chromosome 16 (disorder) Occurrence Congenital false Inferred relationship Some 3
Deletion of part of short arm of chromosome 16 (disorder) Finding site Chromosome pair 16 false Inferred relationship Some 3
Deletion of part of short arm of chromosome 16 (disorder) Occurrence Congenital true Inferred relationship Some 1
Deletion of part of short arm of chromosome 16 (disorder) Finding site Short arm of chromosome true Inferred relationship Some 1
Deletion of part of short arm of chromosome 16 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. Is a True Deletion of part of short arm of chromosome 16 (disorder) Inferred relationship Some
16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems. Is a True Deletion of part of short arm of chromosome 16 (disorder) Inferred relationship Some
Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated. Is a True Deletion of part of short arm of chromosome 16 (disorder) Inferred relationship Some
A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities. Is a True Deletion of part of short arm of chromosome 16 (disorder) Inferred relationship Some
A microdeletion occurring on the short (p) arm of chromosome 16 at a location designated p12.2. Common characteristics of this disease include developmental delay, delayed speech, intellectual disability, hypotonia, short stature, microcephaly, cardiac malformations, recurrent epilepsy, psychiatric and behavioral problems. Manifestations vary even among affected members of the same family. Inherited in an autosomal dominant pattern with incomplete penetrance, in almost all known cases the chromosomal change has been inherited from a parent Is a True Deletion of part of short arm of chromosome 16 (disorder) Inferred relationship Some
The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity. Is a True Deletion of part of short arm of chromosome 16 (disorder) Inferred relationship Some
Chromosome 16p11.2 deletion syndrome Is a True Deletion of part of short arm of chromosome 16 (disorder) Inferred relationship Some
A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors. Is a True Deletion of part of short arm of chromosome 16 (disorder) Inferred relationship Some

This concept is not in any reference sets

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