725903003: Autosomal dominant myoglobinuria (disorder)

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

\Urine finding\Finding of urine substance level\Myoglobinuria\Autosomal dominant myoglobinuria (disorder)
\Urine finding\Abnormal urinary product\Autosomal dominant myoglobinuria (disorder)

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

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

\Finding of substance level (finding)\Finding of urine substance level\Myoglobinuria\Autosomal dominant myoglobinuria (disorder)
\Finding of substance level (finding)\Protein level - finding\Myoglobinuria\Autosomal dominant myoglobinuria (disorder)

\Detected by measurement (finding)\Myoglobinuria\Autosomal dominant myoglobinuria (disorder)

\Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\Lipid storage myopathy\Autosomal dominant myoglobinuria (disorder)

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Hereditary disorder of musculoskeletal system\Autosomal dominant myoglobinuria (disorder)

\Disorder of skeletal muscle\Metabolic myopathy\Lipid storage myopathy\Autosomal dominant myoglobinuria (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant myoglobinuria (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant myoglobinuria (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant myoglobinuria (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Autosomal dominant myoglobinuria (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Metabolic myopathy\Lipid storage myopathy\Autosomal dominant myoglobinuria (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Metabolic myopathy\Lipid storage myopathy\Autosomal dominant myoglobinuria (disorder)
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipid storage disease\Lipid storage myopathy\Autosomal dominant myoglobinuria (disorder)
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Lipid storage disease\Lipid storage myopathy\Autosomal dominant myoglobinuria (disorder)
\Disease\Congenital disease (disorder)\Disorder of lysosomal enzyme\Lipid storage disease\Lipid storage myopathy\Autosomal dominant myoglobinuria (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Lipid storage myopathy\Autosomal dominant myoglobinuria (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3446263014 Autosomal dominant myoglobinuria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3446264015 Autosomal dominant myoglobinuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3446265019 A rare metabolic myopathy with characteristics of episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

927361000172110 myoglobinurie autosomique dominante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

1007621000172110 autosomaal dominante myoglobinurie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant myoglobinuria (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant myoglobinuria (disorder)	Is a	Myoglobinuria	true	Inferred relationship	Some
Autosomal dominant myoglobinuria (disorder)	Is a	Lipid storage myopathy	true	Inferred relationship	Some
Autosomal dominant myoglobinuria (disorder)	Interprets	Urine observable	false	Inferred relationship	Some	2
Autosomal dominant myoglobinuria (disorder)	Has interpretation	Present	false	Inferred relationship	Some	3
Autosomal dominant myoglobinuria (disorder)	Interprets	Myoglobin measurement, urine	true	Inferred relationship	Some	3
Autosomal dominant myoglobinuria (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Autosomal dominant myoglobinuria (disorder)	Finding site	Skeletal muscle structure (body structure)	true	Inferred relationship	Some	4
Autosomal dominant myoglobinuria (disorder)	Is a	Abnormal urinary product	true	Inferred relationship	Some
Autosomal dominant myoglobinuria (disorder)	Has interpretation	Detected	true	Inferred relationship	Some	3
Autosomal dominant myoglobinuria (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3446263014	Autosomal dominant myoglobinuria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3446264015	Autosomal dominant myoglobinuria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3446265019	A rare metabolic myopathy with characteristics of episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
927361000172110	myoglobinurie autosomique dominante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
1007621000172110	autosomaal dominante myoglobinurie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)