278713008: Spondyloepiphyseal dysplasia congenita group (disorder)

SNOMED CT Concept\constatation clinique\...

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita

\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spondyloepiphyseal dysplasia congenita	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia congenita	est un(e) (attribut)	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Spondyloepiphyseal dysplasia congenita	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia congenita	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia congenita	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia congenita	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia congenita	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia congenita	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia congenita	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia congenita	survenue (attribut)	congénital	false	Inferred relationship	Some
Spondyloepiphyseal dysplasia congenita	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia congenita	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia congenita	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia congenita	est un(e) (attribut)	Skeletal dysplasia	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Stickler syndrome type 3 (disorder)	est un(e) (attribut)	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
syndrome de Schwartz-Jampel (trouble)	est un(e) (attribut)	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome	est un(e) (attribut)	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Spondyloepiphyseal dysplasia Stanescu type	est un(e) (attribut)	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Mild spondyloepiphyseal dysplasia with premature onset arthrosis (disorder)	est un(e) (attribut)	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Hypochondrogenesis	est un(e) (attribut)	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Spondyloepiphyseal dysplasia with joint laxity (disorder)	est un(e) (attribut)	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	est un(e) (attribut)	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder)	est un(e) (attribut)	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder)	est un(e) (attribut)	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Spondyloepiphyseal dysplasia Reardon type (disorder)	est un(e) (attribut)	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder)	est un(e) (attribut)	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder)	est un(e) (attribut)	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Spondyloepiphyseal dysplasia Kimberley type (disorder)	est un(e) (attribut)	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
dysplasie spondylo-épiphysaire type Maroteaux	est un(e) (attribut)	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Achondrogenesis, type II	est un(e) (attribut)	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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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