716721003: Genetic recurrent myoglobinuria (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Contents of urine - finding\Abnormal urinary product\Myoglobinuria\Genetic recurrent myoglobinuria
\Evaluation finding\Measurement finding\Finding of substance level\Finding of presence of substance\Myoglobinuria\Genetic recurrent myoglobinuria
\Evaluation finding\Measurement finding\Finding of substance level\Finding of urine substance level\Myoglobinuria\Genetic recurrent myoglobinuria
\Evaluation finding\Measurement finding\Finding of substance level\Protein level - finding\Myoglobinuria\Genetic recurrent myoglobinuria

\Urine finding\Contents of urine - finding\Abnormal urinary product\Myoglobinuria\Genetic recurrent myoglobinuria

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Lipid storage myopathy\Genetic recurrent myoglobinuria

\Muscle finding\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Lipid storage myopathy\Genetic recurrent myoglobinuria

\Musculoskeletal finding\Musculoskeletal disorder\...

\Hereditary disorder of musculoskeletal system\Lipid storage myopathy\Genetic recurrent myoglobinuria

\Disorder of skeletal muscle\Metabolic myopathy\Lipid storage myopathy\Genetic recurrent myoglobinuria

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipid storage disease\Lipid storage myopathy\Genetic recurrent myoglobinuria
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lipid storage myopathy\Genetic recurrent myoglobinuria
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lipid storage myopathy\Genetic recurrent myoglobinuria
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Lipid storage myopathy\Genetic recurrent myoglobinuria
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Metabolic myopathy\Lipid storage myopathy\Genetic recurrent myoglobinuria
\Disease\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Lipid storage myopathy\Genetic recurrent myoglobinuria
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipid storage disease\Lipid storage myopathy\Genetic recurrent myoglobinuria
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipid storage disease\Lipid storage myopathy\Genetic recurrent myoglobinuria
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Lipid storage disease\Lipid storage myopathy\Genetic recurrent myoglobinuria
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipid storage disease\Lipid storage myopathy\Genetic recurrent myoglobinuria
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Lipid storage myopathy\Genetic recurrent myoglobinuria

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3307319011 Genetic recurrent myoglobinuria en Synonym Active Case insensitive SNOMED CT core

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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Genetic recurrent myoglobinuria	Is a	Myoglobinuria	true	Inferred relationship	Some
Genetic recurrent myoglobinuria	Is a	Inborn error of metabolism	false	Inferred relationship	Some
Genetic recurrent myoglobinuria	Occurrence	Congenital	false	Inferred relationship	Some
Genetic recurrent myoglobinuria	Has interpretation	Present	true	Inferred relationship	Some	2
Genetic recurrent myoglobinuria	Interprets	Myoglobin measurement, urine	true	Inferred relationship	Some	2
Genetic recurrent myoglobinuria	Interprets	Urine observable	true	Inferred relationship	Some	3
Genetic recurrent myoglobinuria	Is a	Lipid storage myopathy	true	Inferred relationship	Some
Genetic recurrent myoglobinuria	Occurrence	Congenital	true	Inferred relationship	Some	1
Genetic recurrent myoglobinuria	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3307318015	Genetic recurrent myoglobinuria (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3307319011	Genetic recurrent myoglobinuria	en	Synonym	Active	Case insensitive	SNOMED CT core
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	Case sensitive	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	Case sensitive	SNOMED CT core