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766715000: Metabolic myopathy due to lactate transporter defect (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
3662367011 Metabolic myopathy due to lactate transporter defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3662368018 Metabolic myopathy due to lactate transporter defect (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3662369014 Erythrocyte lactate transporter defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404625012 Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404626013 Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterised by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3662367011 Metabolic myopathy due to lactate transporter defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3662368018 Metabolic myopathy due to lactate transporter defect (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3662369014 Erythrocyte lactate transporter defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3662370010 A rare metabolic myopathy with characteristics of muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria and elevation of serum creatine kinase. Caused by mutation in the SLC16A1 gene. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404625012 Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404626013 Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterised by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3430831001000115 Myopathie, metabolische, durch Laktat-Transporter-Defekt de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
878701000172116 myopathie métabolique par défaut de transport du lactate fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
908441000172114 anomalie du transporteur de lactate de l'érythrocyte fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
878701000172116 myopathie métabolique par défaut de transport du lactate fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
908441000172114 anomalie du transporteur de lactate de l'érythrocyte fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3430831001000115 Myopathie, metabolische, durch Laktat-Transporter-Defekt 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
Metabolic myopathy due to lactate transporter defect (disorder) Is a Metabolic myopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Metabolic myopathy due to lactate transporter defect (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Metabolic myopathy due to lactate transporter defect (disorder) Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Metabolic myopathy due to lactate transporter defect (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Metabolic myopathy due to lactate transporter defect (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Metabolic myopathy due to lactate transporter defect (disorder) Is a Congenital disease true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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