763315005: Congenital myopathy with myasthenic-like onset (disorder)

SNOMED CT Concept\Clinical finding\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital myopathy with myasthenic-like onset

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital myopathy with myasthenic-like onset

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

\Hereditary disorder of musculoskeletal system\Congenital myopathy with myasthenic-like onset

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital myopathy with myasthenic-like onset

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital myopathy with myasthenic-like onset

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital myopathy with myasthenic-like onset
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital myopathy with myasthenic-like onset
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital myopathy with myasthenic-like onset
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital myopathy with myasthenic-like onset
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Congenital myopathy with myasthenic-like onset
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital myopathy with myasthenic-like onset
\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\Congenital myopathy with myasthenic-like onset
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital myopathy with myasthenic-like onset
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital myopathy with myasthenic-like onset
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital myopathy with myasthenic-like onset
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital myopathy with myasthenic-like onset
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital myopathy with myasthenic-like onset

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3638519018 Congenital myopathy with myasthenic-like onset (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3638520012 Congenital myopathy with myasthenic-like onset en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital myopathy with myasthenic-like onset	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Congenital myopathy with myasthenic-like onset	Is a	Congenital anomaly of skeletal muscle	true	Inferred relationship	Existential restriction modifier
Congenital myopathy with myasthenic-like onset	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Congenital myopathy with myasthenic-like onset	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	1
Congenital myopathy with myasthenic-like onset	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Congenital myopathy with myasthenic-like onset	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	1
Congenital myopathy with myasthenic-like onset	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Congenital myopathy with myasthenic-like onset	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Congenital myopathy with myasthenic-like onset	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
3638519018	Congenital myopathy with myasthenic-like onset (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3638520012	Congenital myopathy with myasthenic-like onset	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module