719203001: Spondyloepiphyseal dysplasia Kimberley type (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 group\Spondyloepiphyseal dysplasia Kimberley type
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia Kimberley type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group\Spondyloepiphyseal dysplasia Kimberley type
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group\Spondyloepiphyseal dysplasia Kimberley type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group\Spondyloepiphyseal dysplasia Kimberley type
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group\Spondyloepiphyseal dysplasia Kimberley type

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia Kimberley type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondyloepiphyseal dysplasia Kimberley type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Spondyloepiphyseal dysplasia Kimberley type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia Kimberley type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia Kimberley type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group\Spondyloepiphyseal dysplasia Kimberley type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group\Spondyloepiphyseal dysplasia Kimberley type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group\Spondyloepiphyseal dysplasia Kimberley type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group\Spondyloepiphyseal dysplasia Kimberley type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group\Spondyloepiphyseal dysplasia Kimberley type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group\Spondyloepiphyseal dysplasia Kimberley type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group\Spondyloepiphyseal dysplasia Kimberley type
\Disease\Developmental disorder\Developmental hereditary disorder\Spondyloepiphyseal dysplasia Kimberley type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group\Spondyloepiphyseal dysplasia Kimberley type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group\Spondyloepiphyseal dysplasia Kimberley type

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3315405017 Spondyloepiphyseal dysplasia Kimberley type (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3315406016 Spondyloepiphyseal dysplasia Kimberley type en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spondyloepiphyseal dysplasia Kimberley type	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Spondyloepiphyseal dysplasia Kimberley type	Is a	Spondyloepiphyseal dysplasia congenita group	true	Inferred relationship	Existential restriction modifier
Spondyloepiphyseal dysplasia Kimberley type	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Spondyloepiphyseal dysplasia Kimberley type	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Spondyloepiphyseal dysplasia Kimberley type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Spondyloepiphyseal dysplasia Kimberley type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Spondyloepiphyseal dysplasia Kimberley type	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Spondyloepiphyseal dysplasia Kimberley type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Spondyloepiphyseal dysplasia Kimberley type	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Spondyloepiphyseal dysplasia Kimberley type	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3315405017	Spondyloepiphyseal dysplasia Kimberley type (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3315406016	Spondyloepiphyseal dysplasia Kimberley type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module