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716721003: myoglobinurie récurrente génétique (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3307318015 Genetic recurrent myoglobinuria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3307319011 Genetic recurrent myoglobinuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
749971000241112 myoglobinurie récurrente génétique (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
893791000172112 myoglobinurie récurrente génétique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3307320017 An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3307321018 An inborn error of metabolism characterised by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibres. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. 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
Genetic recurrent myoglobinuria (disorder) est un(e) (attribut) Myoglobinuria (finding) true Inferred relationship Some
Genetic recurrent myoglobinuria (disorder) est un(e) (attribut) Inborn error of metabolism false Inferred relationship Some
Genetic recurrent myoglobinuria (disorder) survenue (attribut) congénital false Inferred relationship Some
Genetic recurrent myoglobinuria (disorder) a pour interprétation (attribut) présent (valeur de l'attribut) true Inferred relationship Some 2
Genetic recurrent myoglobinuria (disorder) interprète (attribut) Myoglobin measurement, urine true Inferred relationship Some 2
Genetic recurrent myoglobinuria (disorder) interprète (attribut) entité observable de l'urine true Inferred relationship Some 3
Genetic recurrent myoglobinuria (disorder) est un(e) (attribut) Lipid storage myopathy true Inferred relationship Some
Genetic recurrent myoglobinuria (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Genetic recurrent myoglobinuria (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

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