FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

699268002: 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
2983256013 Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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 Only initial character 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 Only initial character 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 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
3392671001000116 Hereditäre Myopathie mit Laktatazidose durch ISCU-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5438701000241119 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) SNOMED CT Switzerland NRC maintained Module
5438701000241119 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) SNOMED CT Switzerland NRC maintained Module
3392671001000116 Hereditäre Myopathie mit Laktatazidose durch ISCU-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

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 Existential restriction modifier (core metadata concept)
Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder) Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start