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

SNOMED CT Concept\constatation clinique\...

\constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder)

\constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder)

\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...

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

\affection d'un muscle squelettique\Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder)
\Disease\affection musculaire\affection d'un muscle squelettique\Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder)
\Disease\Disorder of soft tissue\affection d'un muscle squelettique\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:

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder)	est un(e) (attribut)	affection d'un muscle squelettique	true	Inferred relationship	Some
Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder)	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder)	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder)	localisation d'une constatation (attribut)	structure de muscle squelettique	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets