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278713008: Spondyloepiphyseal dysplasia congenita group (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
415714019 Spondyloepiphyseal dysplasia congenita en Synonym Active Entire term case insensitive SNOMED CT core module
415715018 SED - Spondyloepiphyseal dysplasia en Synonym Active Entire term case sensitive SNOMED CT core module
415716017 SEDC - Spondyloepiphyseal dysplasia congenita en Synonym Active Entire term case sensitive SNOMED CT core module
415717014 Spondyloepiphyseal dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module
415718016 Spondyloepiphyseal dysplasia congenita group en Synonym Active Entire term case insensitive SNOMED CT core module
671904019 Spondyloepiphyseal dysplasia congenita group (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

16 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spondyloepiphyseal dysplasia congenita group Is a Congenital skeletal dysplasia true Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia congenita group Finding site Skeletal system structure false Inferred relationship Existential restriction modifier 1
Spondyloepiphyseal dysplasia congenita group Occurrence Congenital false Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia congenita group Associated morphology Dysplasia true Inferred relationship Existential restriction modifier 1
Spondyloepiphyseal dysplasia congenita group Finding site Bone structure true Inferred relationship Existential restriction modifier 1
Spondyloepiphyseal dysplasia congenita group Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 1
Spondyloepiphyseal dysplasia congenita group Finding site Bone structure false Inferred relationship Existential restriction modifier 1
Spondyloepiphyseal dysplasia congenita group Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 1
Spondyloepiphyseal dysplasia congenita group Occurrence Congenital false Inferred relationship Existential restriction modifier 2
Spondyloepiphyseal dysplasia congenita group Finding site Bone structure false Inferred relationship Existential restriction modifier 2
Spondyloepiphyseal dysplasia congenita group Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 2
Spondyloepiphyseal dysplasia congenita group Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Spondyloepiphyseal dysplasia congenita group Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Spondyloepiphyseal dysplasia congenita group Is a Congenital anomaly of skeletal bone true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Hypochondrogenesis Is a True Spondyloepiphyseal dysplasia congenita group Inferred relationship Existential restriction modifier
Achondrogenesis, type II Is a True Spondyloepiphyseal dysplasia congenita group Inferred relationship Existential restriction modifier
Mild spondyloepiphyseal dysplasia with premature onset arthrosis Is a True Spondyloepiphyseal dysplasia congenita group Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia with joint laxity Is a True Spondyloepiphyseal dysplasia congenita group Inferred relationship Existential restriction modifier
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Is a True Spondyloepiphyseal dysplasia congenita group Inferred relationship Existential restriction modifier
Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation Is a True Spondyloepiphyseal dysplasia congenita group Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome Is a True Spondyloepiphyseal dysplasia congenita group Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia Reardon type Is a True Spondyloepiphyseal dysplasia congenita group Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome Is a True Spondyloepiphyseal dysplasia congenita group Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome Is a True Spondyloepiphyseal dysplasia congenita group Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia Kimberley type Is a True Spondyloepiphyseal dysplasia congenita group Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia Maroteaux type Is a True Spondyloepiphyseal dysplasia congenita group Inferred relationship Existential restriction modifier
Stickler syndrome type 3 Is a True Spondyloepiphyseal dysplasia congenita group Inferred relationship Existential restriction modifier
Schwartz-Jampel syndrome Is a True Spondyloepiphyseal dysplasia congenita group Inferred relationship Existential restriction modifier
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome Is a True Spondyloepiphyseal dysplasia congenita group Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia Stanescu type Is a True Spondyloepiphyseal dysplasia congenita group Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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