724095006: myopathie door calsequestrine-eiwitoverbelasting en SERCA1-eiwitoverbelasting (aandoening)

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

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload (disorder)

\Muscle finding\Disorder of muscle\...

\Hereditary myopathy (disorder)\Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload (disorder)

\Disorder of skeletal muscle\Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload (disorder)

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

\Hereditary disorder of musculoskeletal system\Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload (disorder)

\Disorder of skeletal muscle\Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary myopathy (disorder)\Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload (disorder)
\Disease\Disorder of muscle\Hereditary myopathy (disorder)\Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload (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

3430604018 Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3430605017 Myopathy due to calsequestrin and SERCA1 protein overload en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3430606016 Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3430607013 Myopathy due to calsequestrin and SERCA1 (sarcoplasmic/endoplasmic reticulum calcium ATPase 1) protein overload en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

6528261000146115 vacuolaire myopathie met aggregaten van proteïnen van sarcoplasmatisch reticulum nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6886491000146116 myopathie door calsequestrine-eiwitoverbelasting en SERCA1-eiwitoverbelasting (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6886501000146114 myopathie door calsequestrine-eiwitoverbelasting en SERCA1-eiwitoverbelasting nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload (disorder)	Is a	Disorder of skeletal muscle	true	Inferred relationship	Some
Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload (disorder)	Is a	Hereditary myopathy (disorder)	true	Inferred relationship	Some

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
3430604018	Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3430605017	Myopathy due to calsequestrin and SERCA1 protein overload	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3430606016	Myopathy due to calsequestrin and sarcoplasmic/endoplasmic reticulum calcium ATPase 1 protein overload	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3430607013	Myopathy due to calsequestrin and SERCA1 (sarcoplasmic/endoplasmic reticulum calcium ATPase 1) protein overload	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6528261000146115	vacuolaire myopathie met aggregaten van proteïnen van sarcoplasmatisch reticulum	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6886491000146116	myopathie door calsequestrine-eiwitoverbelasting en SERCA1-eiwitoverbelasting (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6886501000146114	myopathie door calsequestrine-eiwitoverbelasting en SERCA1-eiwitoverbelasting	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)