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718764004: Spondyloepiphyseal dysplasia Reardon 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
3313778018 Spondyloepiphyseal dysplasia Reardon type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3313779014 Spondyloepiphyseal dysplasia Reardon type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3313780012 An extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and with characteristics of short stature, vertebral and femoral abnormalities, cervical instability and neurological manifestations secondary to anomalies of the odontoid process. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
982751000172116 dysplasie spondylo-épiphysaire type Reardon fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
946911000172112 spondylo-epifysaire dysplasie, Reardon-type nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spondyloepiphyseal dysplasia Reardon type (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Spondyloepiphyseal dysplasia Reardon type (disorder) Is a Short stature disorder true Inferred relationship Some
Spondyloepiphyseal dysplasia Reardon type (disorder) Is a Spondyloepiphyseal dysplasia congenita group (disorder) true Inferred relationship Some
Spondyloepiphyseal dysplasia Reardon type (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Spondyloepiphyseal dysplasia Reardon type (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Spondyloepiphyseal dysplasia Reardon type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 1
Spondyloepiphyseal dysplasia Reardon type (disorder) Occurrence Congenital true Inferred relationship Some 1
Spondyloepiphyseal dysplasia Reardon type (disorder) Finding site Bone structure true Inferred relationship Some 1
Spondyloepiphyseal dysplasia Reardon type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Spondyloepiphyseal dysplasia Reardon type (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Spondyloepiphyseal dysplasia Reardon type (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Spondyloepiphyseal dysplasia Reardon type (disorder) Interprets Height / growth measure true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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