716696006: Autosomal dominant centronuclear myopathy (disorder)

SNOMED CT Concept\Clinical finding\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal dominant centronuclear myopathy

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal dominant centronuclear myopathy

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Hereditary disorder of musculoskeletal system\Autosomal dominant centronuclear myopathy

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal dominant centronuclear myopathy

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal dominant centronuclear myopathy

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant centronuclear myopathy
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal dominant centronuclear myopathy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant centronuclear myopathy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant centronuclear myopathy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Autosomal dominant centronuclear myopathy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal dominant centronuclear myopathy
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal dominant centronuclear myopathy
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal dominant centronuclear myopathy
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal dominant centronuclear myopathy
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal dominant centronuclear myopathy
\Disease\Developmental disorder\Developmental hereditary disorder\Autosomal dominant centronuclear myopathy
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myotubular myopathy\Autosomal dominant centronuclear myopathy

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2016. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3307231010 Autosomal dominant centronuclear myopathy (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3307232015 Autosomal dominant centronuclear myopathy en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant centronuclear myopathy	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Autosomal dominant centronuclear myopathy	Is a	Myotubular myopathy	true	Inferred relationship	Existential restriction modifier
Autosomal dominant centronuclear myopathy	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Autosomal dominant centronuclear myopathy	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	1
Autosomal dominant centronuclear myopathy	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant centronuclear myopathy	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant centronuclear myopathy	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant centronuclear myopathy	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant centronuclear myopathy	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
3307231010	Autosomal dominant centronuclear myopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3307232015	Autosomal dominant centronuclear myopathy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module