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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
5401861015 Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401862010 Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterised by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
5401861015 Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401862010 Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterised by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3442901001000115 Dysplasie, spondyloepiphysäre, Typ Reardon de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
982751000172116 dysplasie spondylo-épiphysaire type Reardon fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
982751000172116 dysplasie spondylo-épiphysaire type Reardon fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3442901001000115 Dysplasie, spondyloepiphysäre, Typ Reardon de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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 Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia Reardon type (disorder) Is a Short stature disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia Reardon type (disorder) Is a Spondyloepiphyseal dysplasia congenita group (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia Reardon type (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia Reardon type (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia Reardon type (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia Reardon type (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia Reardon type (disorder) Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia Reardon type (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia Reardon type (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia Reardon type (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia Reardon type (disorder) Interprets Height / growth measure (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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