702373006: hereditaire myopathie met vroeg respiratoir falen (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Proximal myopathy\Hereditary myopathy with early respiratory failure

\Respiratory finding\Disorder of respiratory system (disorder)\Respiratory insufficiency (disorder)\Respiratory failure (disorder)\Hereditary myopathy with early respiratory failure

\Muscle finding\Disorder of muscle\...

\Hereditary myopathy (disorder)\Hereditary myopathy with early respiratory failure

\Disorder of skeletal muscle\Proximal myopathy\Hereditary myopathy with early respiratory failure

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

\Hereditary disorder of musculoskeletal system\Hereditary myopathy with early respiratory failure

\Disorder of skeletal muscle\Proximal myopathy\Hereditary myopathy with early respiratory failure

\Disease\Genetic disease\Hereditary disease\Hereditary myopathy (disorder)\Hereditary myopathy with early respiratory failure
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary myopathy with early respiratory failure
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Hereditary myopathy with early respiratory failure
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary myopathy with early respiratory failure
\Disease\Disorder of body system\Disorder of respiratory system (disorder)\Respiratory insufficiency (disorder)\Respiratory failure (disorder)\Hereditary myopathy with early respiratory failure
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Hereditary myopathy with early respiratory failure
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Proximal myopathy\Hereditary myopathy with early respiratory failure
\Disease\Disorder of muscle\Hereditary myopathy (disorder)\Hereditary myopathy with early respiratory failure
\Disease\Disorder of muscle\Disorder of skeletal muscle\Proximal myopathy\Hereditary myopathy with early respiratory failure
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Proximal myopathy\Hereditary myopathy with early respiratory failure

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary myopathy with early respiratory failure	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Hereditary myopathy with early respiratory failure	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Hereditary myopathy with early respiratory failure	Is a	Respiratory failure (disorder)	true	Inferred relationship	Some
Hereditary myopathy with early respiratory failure	Is a	Proximal myopathy	true	Inferred relationship	Some
Hereditary myopathy with early respiratory failure	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Hereditary myopathy with early respiratory failure	Finding site	Structure of respiratory system (body structure)	true	Inferred relationship	Some	2
Hereditary myopathy with early respiratory failure	Is a	Hereditary myopathy (disorder)	true	Inferred relationship	Some

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
2995273010	MPRM - myopathy, proximal, with early respiratory muscle involvement	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2995852019	HMERF - hereditary myopathy with early respiratory failure	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2995913010	Hereditary myopathy with early respiratory failure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2995929019	Hereditary myopathy with early respiratory failure (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3497207017	Hereditary proximal myopathy with early respiratory failure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3497208010	Edstrom myopathy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
107501000146116	hereditaire myopathie met vroeg respiratoir falen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
980631000146113	hereditaire myopathie met vroeg respiratoir falen (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)