278713008: congenitale spondylo-epifysaire dysplasie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spondyloepiphyseal dysplasia congenita group (disorder)	Is a	Skeletal dysplasia	true	Inferred relationship	Some
Spondyloepiphyseal dysplasia congenita group (disorder)	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia congenita group (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Spondyloepiphyseal dysplasia congenita group (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia congenita group (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia congenita group (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia congenita group (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia congenita group (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia congenita group (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia congenita group (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia congenita group (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia congenita group (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia congenita group (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia congenita group (disorder)	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hypochondrogenesis	Is a	True	Spondyloepiphyseal dysplasia congenita group (disorder)	Inferred relationship	Some
Achondrogenesis, type II (disorder)	Is a	True	Spondyloepiphyseal dysplasia congenita group (disorder)	Inferred relationship	Some
Mild spondyloepiphyseal dysplasia with premature onset arthrosis (disorder)	Is a	True	Spondyloepiphyseal dysplasia congenita group (disorder)	Inferred relationship	Some
Spondyloepiphyseal dysplasia with joint laxity (disorder)	Is a	True	Spondyloepiphyseal dysplasia congenita group (disorder)	Inferred relationship	Some
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Is a	True	Spondyloepiphyseal dysplasia congenita group (disorder)	Inferred relationship	Some
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	Some
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder)	Is a	True	Spondyloepiphyseal dysplasia congenita group (disorder)	Inferred relationship	Some
Spondyloepiphyseal dysplasia Reardon type (disorder)	Is a	True	Spondyloepiphyseal dysplasia congenita group (disorder)	Inferred relationship	Some
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder)	Is a	True	Spondyloepiphyseal dysplasia congenita group (disorder)	Inferred relationship	Some
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder)	Is a	True	Spondyloepiphyseal dysplasia congenita group (disorder)	Inferred relationship	Some
Spondyloepiphyseal dysplasia Kimberley type (disorder)	Is a	True	Spondyloepiphyseal dysplasia congenita group (disorder)	Inferred relationship	Some
Spondyloepiphyseal dysplasia Maroteaux type (disorder)	Is a	True	Spondyloepiphyseal dysplasia congenita group (disorder)	Inferred relationship	Some
Stickler syndrome type 3 (disorder)	Is a	True	Spondyloepiphyseal dysplasia congenita group (disorder)	Inferred relationship	Some
Schwartz-Jampel syndrome	Is a	True	Spondyloepiphyseal dysplasia congenita group (disorder)	Inferred relationship	Some
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome	Is a	True	Spondyloepiphyseal dysplasia congenita group (disorder)	Inferred relationship	Some
Spondyloepiphyseal dysplasia Stanescu type	Is a	True	Spondyloepiphyseal dysplasia congenita group (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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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
9468721000146112	congenitale spondylo-epifysaire dysplasie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9468731000146114	congenitale spondylo-epifysaire dysplasie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9468741000146118	SED	nl	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9468751000146115	spondylo-epifysaire dysplasie	nl	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9468761000146117	SEDC	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)