725903003: Autosomal dominant myoglobinuria (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Finding of contents of urine\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\Finding of protein level\Myoglobinuria\Autosomal dominant myoglobinuria

\Urine finding\Finding of contents of urine\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\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Metabolic myopathy\Lipid storage myopathy\Autosomal dominant myoglobinuria

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

\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\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Lipid storage myopathy\Autosomal dominant myoglobinuria
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Metabolic myopathy\Lipid storage myopathy\Autosomal dominant myoglobinuria
\Disease\Disorder of skeletal AND/OR smooth muscle\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, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

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

3446264015 Autosomal dominant myoglobinuria en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3446263014	Autosomal dominant myoglobinuria (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3446264015	Autosomal dominant myoglobinuria	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module