716721003: Genetic recurrent myoglobinuria (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Urine finding\Finding of urine substance level\Myoglobinuria\Genetic recurrent myoglobinuria
\Urine finding\Abnormal urinary product\Genetic recurrent myoglobinuria

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

\Procedure related finding\Evaluation finding\Measurement finding\...

\Finding of substance level (finding)\Finding of urine substance level\Myoglobinuria\Genetic recurrent myoglobinuria
\Finding of substance level (finding)\Finding of protein level (finding)\Myoglobinuria\Genetic recurrent myoglobinuria

\Detected by measurement\Myoglobinuria\Genetic recurrent myoglobinuria

\Muscle finding (finding)\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy (disorder)\Lipid storage myopathy\Genetic recurrent myoglobinuria

\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Metabolic myopathy (disorder)\Lipid storage myopathy\Genetic recurrent myoglobinuria

\Disease\Disorder of foetus and/or newborn\Congenital disease\Disorder of lysosomal enzyme\Lipid storage disease (disorder)\Lipid storage myopathy\Genetic recurrent myoglobinuria
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Metabolic myopathy (disorder)\Lipid storage myopathy\Genetic recurrent myoglobinuria
\Disease\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy (disorder)\Lipid storage myopathy\Genetic recurrent myoglobinuria
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipid storage disease (disorder)\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 (disorder)\Lipid storage myopathy\Genetic recurrent myoglobinuria
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy (disorder)\Lipid storage myopathy\Genetic recurrent myoglobinuria

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

5401385017 Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401386016 Genetic recurrent myoglobinuria is an inborn error of metabolism characterised by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibres. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3307318015 Genetic recurrent myoglobinuria (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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 Only initial character 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

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

5401385017 Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401386016 Genetic recurrent myoglobinuria is an inborn error of metabolism characterised by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibres. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3414271001000118 Myoglobinurie, rekurrente, genetisch bedingte de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

893791000172112 myoglobinurie récurrente génétique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

893791000172112 myoglobinurie récurrente génétique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3414271001000118 Myoglobinurie, rekurrente, genetisch bedingte de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Genetic recurrent myoglobinuria	Is a	Myoglobinuria	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Genetic recurrent myoglobinuria	Is a	Inborn error of metabolism	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Genetic recurrent myoglobinuria	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Genetic recurrent myoglobinuria	Has interpretation	Present (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Genetic recurrent myoglobinuria	Interprets	Myoglobin measurement, urine	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Genetic recurrent myoglobinuria	Interprets	Urine observable	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Genetic recurrent myoglobinuria	Is a	Lipid storage myopathy	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Genetic recurrent myoglobinuria	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Genetic recurrent myoglobinuria	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Genetic recurrent myoglobinuria	Is a	Abnormal urinary product	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Genetic recurrent myoglobinuria	Has interpretation	Detected (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

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
5401385017	Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401386016	Genetic recurrent myoglobinuria is an inborn error of metabolism characterised by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibres.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3307318015	Genetic recurrent myoglobinuria (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
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
5401385017	Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401386016	Genetic recurrent myoglobinuria is an inborn error of metabolism characterised by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibres.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3414271001000118	Myoglobinurie, rekurrente, genetisch bedingte	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
893791000172112	myoglobinurie récurrente génétique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
893791000172112	myoglobinurie récurrente génétique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3414271001000118	Myoglobinurie, rekurrente, genetisch bedingte	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module