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724095006: 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
5403227015 A rare, genetic vacuolar myopathy characterized by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403228013 A rare, genetic vacuolar myopathy characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
5403227015 A rare, genetic vacuolar myopathy characterized by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403228013 A rare, genetic vacuolar myopathy characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3433951001000114 Vakuoläre Myopathie mit Proteinaggregaten des sarkoplasmatischen Retikulums de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5486601000241119 myopathie vacuolaire avec agrégation de protéines du réticulum sarcoplasmique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5486601000241119 myopathie vacuolaire avec agrégation de protéines du réticulum sarcoplasmique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3433951001000114 Vakuoläre Myopathie mit Proteinaggregaten des sarkoplasmatischen Retikulums de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Myopathy due to calsequestrin and SERCA1 protein overload Is a Disorder of skeletal muscle true Inferred relationship Existential restriction modifier (core metadata concept)
Myopathy due to calsequestrin and SERCA1 protein overload Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Myopathy due to calsequestrin and SERCA1 protein overload Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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