725903003: Autosomal dominant myoglobinuria (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Urine finding\Contents of urine - finding\Abnormal urinary product\Myoglobinuria\Autosomal dominant myoglobinuria

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

\Muscle finding\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Lipid storage myopathy\Autosomal dominant myoglobinuria

\Musculoskeletal finding\Musculoskeletal disorder\...

\Hereditary disorder of musculoskeletal system\Lipid storage myopathy\Autosomal dominant myoglobinuria

\Disorder of skeletal muscle\Metabolic myopathy\Lipid storage myopathy\Autosomal dominant 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\Autosomal dominant myoglobinuria
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lipid storage myopathy\Autosomal dominant myoglobinuria
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant myoglobinuria
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Lipid storage myopathy\Autosomal dominant myoglobinuria
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Lipid storage myopathy\Autosomal dominant myoglobinuria
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Metabolic myopathy\Lipid storage myopathy\Autosomal dominant myoglobinuria
\Disease\Myopathy\Disorder of skeletal muscle\Metabolic myopathy\Lipid storage myopathy\Autosomal dominant myoglobinuria
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipid storage disease\Lipid storage myopathy\Autosomal dominant myoglobinuria
\Disease\Metabolic disease\Enzymopathy\Disorder of lysosomal enzyme\Lipid storage disease\Lipid storage myopathy\Autosomal dominant myoglobinuria
\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
\Disease\Congenital disease\Inborn error of metabolism\Storage disease\Disorder of lysosomal enzyme\Lipid storage disease\Lipid storage myopathy\Autosomal dominant myoglobinuria
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Metabolic myopathy\Lipid storage myopathy\Autosomal dominant myoglobinuria

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3446264015 Autosomal dominant myoglobinuria en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant myoglobinuria	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant myoglobinuria	Is a	Myoglobinuria	true	Inferred relationship	Some
Autosomal dominant myoglobinuria	Is a	Lipid storage myopathy	true	Inferred relationship	Some
Autosomal dominant myoglobinuria	Interprets	Urine observable	true	Inferred relationship	Some	2
Autosomal dominant myoglobinuria	Has interpretation	Present	true	Inferred relationship	Some	3
Autosomal dominant myoglobinuria	Interprets	Myoglobin measurement, urine	true	Inferred relationship	Some	3
Autosomal dominant myoglobinuria	Occurrence	Congenital	true	Inferred relationship	Some	4
Autosomal dominant myoglobinuria	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	4

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
3446263014	Autosomal dominant myoglobinuria (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3446264015	Autosomal dominant myoglobinuria	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core