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278713008: Spondyloepiphyseal dysplasia congenita group (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
415714019 Spondyloepiphyseal dysplasia congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
415715018 SED - Spondyloepiphyseal dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
415716017 SEDC - Spondyloepiphyseal dysplasia congenita en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
415717014 Spondyloepiphyseal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
415718016 Spondyloepiphyseal dysplasia congenita group en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
671904019 Spondyloepiphyseal dysplasia congenita group (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
415714019 Spondyloepiphyseal dysplasia congenita en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
415714019 Spondyloepiphyseal dysplasia congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
415715018 SED - Spondyloepiphyseal dysplasia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
415715018 SED - Spondyloepiphyseal dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
415716017 SEDC - Spondyloepiphyseal dysplasia congenita en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
415716017 SEDC - Spondyloepiphyseal dysplasia congenita en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
415717014 Spondyloepiphyseal dysplasia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
415717014 Spondyloepiphyseal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
415718016 Spondyloepiphyseal dysplasia congenita group en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
415718016 Spondyloepiphyseal dysplasia congenita group en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
671904019 Spondyloepiphyseal dysplasia congenita group (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
671904019 Spondyloepiphyseal dysplasia congenita group (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3383571001000112 Dysplasie, spondyloepiphysäre, kongenitaler Typ de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5130421000241115 dysplasie spondyloépiphysaire congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5130421000241115 dysplasie spondyloépiphysaire congénitale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3383571001000112 Dysplasie, spondyloepiphysäre, kongenitaler Typ de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

17 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spondyloepiphyseal dysplasia congenita group (disorder) Is a Skeletal dysplasia true Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia congenita group (disorder) Finding site Skeletal system structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia congenita group (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia congenita group (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia congenita group (disorder) Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia congenita group (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia congenita group (disorder) Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia congenita group (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia congenita group (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondyloepiphyseal dysplasia congenita group (disorder) Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondyloepiphyseal dysplasia congenita group (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondyloepiphyseal dysplasia congenita group (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia congenita group (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia congenita group (disorder) Is a Congenital anomaly of skeletal bone true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Hypochondrogenesis Is a True Spondyloepiphyseal dysplasia congenita group (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Achondrogenesis, type II (disorder) Is a True Spondyloepiphyseal dysplasia congenita group (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mild spondyloepiphyseal dysplasia with premature onset arthrosis (disorder) Is a True Spondyloepiphyseal dysplasia congenita group (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia with joint laxity (disorder) Is a True Spondyloepiphyseal dysplasia congenita group (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Is a True Spondyloepiphyseal dysplasia congenita group (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder) Is a True Spondyloepiphyseal dysplasia congenita group (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Is a True Spondyloepiphyseal dysplasia congenita group (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia Reardon type (disorder) Is a True Spondyloepiphyseal dysplasia congenita group (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia Cantu type Is a True Spondyloepiphyseal dysplasia congenita group (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) Is a True Spondyloepiphyseal dysplasia congenita group (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia Kimberley type (disorder) Is a True Spondyloepiphyseal dysplasia congenita group (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterised clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis. Is a True Spondyloepiphyseal dysplasia congenita group (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Stickler syndrome type 3 (disorder) Is a True Spondyloepiphyseal dysplasia congenita group (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Schwartz-Jampel syndrome Is a True Spondyloepiphyseal dysplasia congenita group (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome (disorder) Is a True Spondyloepiphyseal dysplasia congenita group (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia Stanescu type Is a True Spondyloepiphyseal dysplasia congenita group (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, Leber congenital amaurosis syndrome (disorder) Is a True Spondyloepiphyseal dysplasia congenita group (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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