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719689005: Multiple epiphyseal dysplasia Beighton type (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3317497018 Multiple epiphyseal dysplasia Beighton type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3317498011 Multiple epiphyseal dysplasia Beighton type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3317499015 Multiple epiphyseal dysplasia with myopia and deafness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3317500012 A skeletal dysplasia with characteristics of epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness and stubby digits. It has been described in one family in which the mother and three of her four children were affected. The condition is caused by a mutation in the COL2A1 gene (12q13.11-q13.2) and is transmitted in an autosomal dominant manner. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multiple epiphyseal dysplasia Beighton type (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Multiple epiphyseal dysplasia Beighton type (disorder) Is a Multiple epiphyseal dysplasia true Inferred relationship Some
Multiple epiphyseal dysplasia Beighton type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 2
Multiple epiphyseal dysplasia Beighton type (disorder) Occurrence Congenital false Inferred relationship Some 2
Multiple epiphyseal dysplasia Beighton type (disorder) Finding site Structure of epiphysis false Inferred relationship Some 2
Multiple epiphyseal dysplasia Beighton type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Multiple epiphyseal dysplasia Beighton type (disorder) Occurrence Congenital true Inferred relationship Some 1
Multiple epiphyseal dysplasia Beighton type (disorder) Finding site Structure of epiphysis true Inferred relationship Some 1
Multiple epiphyseal dysplasia Beighton type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 1
Multiple epiphyseal dysplasia Beighton type (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Multiple epiphyseal dysplasia Beighton type (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 2
Multiple epiphyseal dysplasia Beighton type (disorder) Occurrence Congenital true Inferred relationship Some 4
Multiple epiphyseal dysplasia Beighton type (disorder) Has interpretation Decreased true Inferred relationship Some 3
Multiple epiphyseal dysplasia Beighton type (disorder) Finding site Ear structure true Inferred relationship Some 4
Multiple epiphyseal dysplasia Beighton type (disorder) Is a Auditory system hereditary disorder true Inferred relationship Some
Multiple epiphyseal dysplasia Beighton type (disorder) Is a Chronic disease of ear false Inferred relationship Some
Multiple epiphyseal dysplasia Beighton type (disorder) Interprets Hearing true Inferred relationship Some 3
Multiple epiphyseal dysplasia Beighton type (disorder) Is a Congenital conductive hearing loss true Inferred relationship Some
Multiple epiphyseal dysplasia Beighton type (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 4
Multiple epiphyseal dysplasia Beighton type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Multiple epiphyseal dysplasia Beighton type (disorder) Interprets Height / growth measure true Inferred relationship Some 5
Multiple epiphyseal dysplasia Beighton type (disorder) Is a Chronic deafness true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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