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718764004: Spondyloepiphyseal dysplasia Reardon type (disorder)


Status: current, Primitive. 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 Initial character case insensitive SNOMED CT core
3313779014 Spondyloepiphyseal dysplasia Reardon type en Synonym Active Initial character case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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