699268002: Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder)

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

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder)

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder)

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

\Hereditary disorder of musculoskeletal system\Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder)

\Disorder of skeletal muscle\Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder)	Is a	Disorder of skeletal muscle	true	Inferred relationship	Some
Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder)	Finding site	Skeletal muscle structure (body structure)	true	Inferred relationship	Some	1

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
2983256013	Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2983276019	Myopathy with deficiency of succinate dehydrogenase and aconitase	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2983343015	Myopathy with deficiency of iron-sulphur cluster assembly enzyme	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2983346011	Myoglobinuria due to abnormal glycolysis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2983419019	Hereditary myopathy with lactic acidosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2983445011	Myopathy with exercise intolerance, Swedish type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2983465016	Myopathy with deficiency of iron-sulfur cluster assembly enzyme	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7624921000172112	myopathie héréditaire avec acidose lactique par déficit en enzyme d'assemblage des amas fer-soufre	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7624931000172110	myopathie avec intolérance à l'effort de type suédois	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7624941000172115	myopathie héréditaire avec acidose lactique par déficit en succinate déshydrogénase et aconitase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5492711000172115	erfelijke myopathie met lactaatacidose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5492721000172113	hereditaire myopathie met deficiëntie van succinaathydrogenase en aconitase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5492731000172111	erfelijke myopathie met deficiëntie van succinaathydrogenase en aconitase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)