718764004: Spondyloepiphyseal dysplasia Reardon type (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of general physiological development\Disorder of stature\Short stature disorder\Spondyloepiphyseal dysplasia Reardon type

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Spondyloepiphyseal dysplasia Reardon type

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

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

3313778018 Spondyloepiphyseal dysplasia Reardon type (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3313779014 Spondyloepiphyseal dysplasia Reardon 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 Reardon type	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Spondyloepiphyseal dysplasia Reardon type	Is a	Short stature disorder	true	Inferred relationship	Existential restriction modifier
Spondyloepiphyseal dysplasia Reardon type	Is a	Spondyloepiphyseal dysplasia congenita group	true	Inferred relationship	Existential restriction modifier
Spondyloepiphyseal dysplasia Reardon type	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Spondyloepiphyseal dysplasia Reardon type	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Spondyloepiphyseal dysplasia Reardon type	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Spondyloepiphyseal dysplasia Reardon type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Spondyloepiphyseal dysplasia Reardon type	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Spondyloepiphyseal dysplasia Reardon type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Spondyloepiphyseal dysplasia Reardon type	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Spondyloepiphyseal dysplasia Reardon type	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Spondyloepiphyseal dysplasia Reardon type	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3313778018	Spondyloepiphyseal dysplasia Reardon type (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3313779014	Spondyloepiphyseal dysplasia Reardon type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module