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766715000: myopathie métabolique par défaut de transport du lactate (trouble)


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
768211000241112 myopathie métabolique par défaut de transport du lactate (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
878701000172116 myopathie métabolique par défaut de transport du lactate fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
908441000172114 anomalie du transporteur de lactate de l'érythrocyte fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Metabolic myopathy due to lactate transporter defect est un(e) (attribut) myopathie d'origine métabolique (trouble) true Inferred relationship Some
Metabolic myopathy due to lactate transporter defect survenue (attribut) congénital true Inferred relationship Some 1
Metabolic myopathy due to lactate transporter defect localisation d'une constatation (attribut) structure de muscle squelettique true Inferred relationship Some 1
Metabolic myopathy due to lactate transporter defect est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Metabolic myopathy due to lactate transporter defect est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Metabolic myopathy due to lactate transporter defect est un(e) (attribut) Congenital disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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