FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.13 | FHIR Version n/a User: [n/a]

240095001: Lipid storage myopathy (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

\Musculoskeletal finding\Musculoskeletal disorder\...

\Hereditary disorder of musculoskeletal system\Lipid storage myopathy

\Disorder of skeletal muscle\Metabolic myopathy\Lipid storage myopathy

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

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

359705015 Lipid storage myopathy en Synonym Active Case insensitive SNOMED CT core

629192012 Lipid storage myopathy (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lipid storage myopathy	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	2
Lipid storage myopathy	Occurrence	Congenital	true	Inferred relationship	Some	1
Lipid storage myopathy	Is a	Metabolic myopathy	true	Inferred relationship	Some
Lipid storage myopathy	Is a	Congenital anomaly of skeletal muscle	false	Inferred relationship	Some
Lipid storage myopathy	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Lipid storage myopathy	Is a	Lipid storage disease	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Neutral lipid storage disease with myopathy	Is a	True	Lipid storage myopathy	Inferred relationship	Some
Genetic recurrent myoglobinuria	Is a	True	Lipid storage myopathy	Inferred relationship	Some
Autosomal dominant myoglobinuria	Is a	True	Lipid storage myopathy	Inferred relationship	Some

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
359705015	Lipid storage myopathy	en	Synonym	Active	Case insensitive	SNOMED CT core
629192012	Lipid storage myopathy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core