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726375005: Deletion of part of long arm of chromosome 6 (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
3464720017 Deletion of part of long arm of chromosome 6 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3464721018 Deletion of part of long arm of chromosome 6 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deletion of part of long arm of chromosome 6 (disorder) Is a Deletion of part of chromosome 6 (disorder) true Inferred relationship Some
Deletion of part of long arm of chromosome 6 (disorder) Occurrence Congenital true Inferred relationship Some 2
Deletion of part of long arm of chromosome 6 (disorder) Finding site Chromosome pair 6 true Inferred relationship Some 2
Deletion of part of long arm of chromosome 6 (disorder) Occurrence Congenital true Inferred relationship Some 3
Deletion of part of long arm of chromosome 6 (disorder) Finding site Chromosome pair 6 true Inferred relationship Some 3
Deletion of part of long arm of chromosome 6 (disorder) Associated morphology Deletion of long arm true Inferred relationship Some 2
Deletion of part of long arm of chromosome 6 (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 3
Inbound Relationships Type Active Source Characteristic Refinability Group
6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss. Is a True Deletion of part of long arm of chromosome 6 (disorder) Inferred relationship Some
A rare partial deletion of the long arm of chromosome 6 characterized by a variable clinical phenotype that includes a characteristic craniofacial dysmorphism (including microcephaly, broad nose with prominent nasal root and bulbous nasal tip, large ears that may be malformed and low-set, characteristic downturned mouth, and short neck), global development delay, intellectual disability, and variable, non-specific, congenital malformations. Muscular hypotonia, seizures, retinal anomalies, and variable brain abnormalities have been reported in association. Is a True Deletion of part of long arm of chromosome 6 (disorder) Inferred relationship Some
Distal deletion of long arm of chromosome 6 (disorder) Is a True Deletion of part of long arm of chromosome 6 (disorder) Inferred relationship Some
6q16 microdeletion syndrome Is a True Deletion of part of long arm of chromosome 6 (disorder) Inferred relationship Some
Proximal deletion of long arm of chromosome 6 (disorder) Is a True Deletion of part of long arm of chromosome 6 (disorder) Inferred relationship Some

This concept is not in any reference sets

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