278713008: Spondyloepiphyseal dysplasia congenita group (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

415714019 Spondyloepiphyseal dysplasia congenita en Synonym Active Case insensitive SNOMED CT core

415715018 SED - Spondyloepiphyseal dysplasia en Synonym Active Case sensitive SNOMED CT core

415716017 SEDC - Spondyloepiphyseal dysplasia congenita en Synonym Active Case sensitive SNOMED CT core

415717014 Spondyloepiphyseal dysplasia en Synonym Active Case insensitive SNOMED CT core

415718016 Spondyloepiphyseal dysplasia congenita group en Synonym Active Case insensitive SNOMED CT core

671904019 Spondyloepiphyseal dysplasia congenita group (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Stickler syndrome type 3	Is a	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Schwartz-Jampel syndrome	Is a	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome	Is a	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Spondyloepiphyseal dysplasia Stanescu type	Is a	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Mild spondyloepiphyseal dysplasia with premature onset arthrosis	Is a	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Hypochondrogenesis	Is a	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Spondyloepiphyseal dysplasia with joint laxity	Is a	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Is a	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis	Is a	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Spondyloepiphyseal dysplasia MacDermot type	Is a	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Spondyloepiphyseal dysplasia Reardon type	Is a	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Spondyloepiphyseal dysplasia Cantu type	Is a	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Spondyloepiphyseal dysplasia Nishimura type	Is a	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Spondyloepiphyseal dysplasia Kimberley type	Is a	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Spondyloepiphyseal dysplasia Maroteaux type	Is a	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Achondrogenesis, type II	Is a	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

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