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702400006: Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2995221014 Spondyloepiphyseal dysplasia, Omani type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2995320012 Humero-spinal dysostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2995613012 Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2995736011 Autosomal recessive Larsen syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2995867015 Spondyloepiphyseal dysplasia with congenital joint dislocations en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2995221014 Spondyloepiphyseal dysplasia, Omani type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2995320012 Humero-spinal dysostosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2995320012 Humero-spinal dysostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2995378015 CHST3-related skeletal dysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2995613012 Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2995613012 Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2995736011 Autosomal recessive Larsen syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2995867015 Spondyloepiphyseal dysplasia with congenital joint dislocations en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2995867015 Spondyloepiphyseal dysplasia with congenital joint dislocations en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5448901000241118 dysplasie spondyloépiphysaire associée à des luxations articulaires congénitales fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5448901000241118 dysplasie spondyloépiphysaire associée à des luxations articulaires congénitales fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Is a Multiple dislocations with dysplasia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Finding site Joint structure of multiple body sites (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Associated morphology Dislocation true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Is a Spondyloepimetaphyseal disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 3
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Due to Spontaneous event (event) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Interprets Height / growth measure (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Associated morphology Damage false Inferred relationship Existential restriction modifier (core metadata concept) 6
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Is a Bone injury true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group
CHST3-related skeletal dysplasia Is a True Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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