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723407009: Muscular dystrophy Selcen type (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
3424457013 Muscular dystrophy Selcen type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3424458015 Muscular dystrophy Selcen type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3424461019 Selcen muscular dystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403043018 Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403044012 Selcen type muscular dystrophy is characterised by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424457013 Muscular dystrophy Selcen type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3424458015 Muscular dystrophy Selcen type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3424461019 Selcen muscular dystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424459011 Disease characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly. Two patients presented with a rigid spine and one a peripheral neuropathy. Disintegration of Z disks, extensive accumulation of granular debris and larger inclusions and apoptosis of a small fraction of the nuclei distinguish the disease. Caused by a mutation in the BAG3 gene, encoding a protein localized to the Z disk. Transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424460018 Disease characterised by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly. Two patients presented with a rigid spine and one a peripheral neuropathy. Disintegration of Z disks, extensive accumulation of granular debris and larger inclusions and apoptosis of a small fraction of the nuclei distinguish the disease. Caused by a mutation in the BAG3 gene, encoding a protein localised to the Z disk. Transmission is autosomal dominant. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403043018 Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403044012 Selcen type muscular dystrophy is characterised by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3389781001000115 Muskeldystrophie Typ Selcen de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
925121000172114 dystrophie musculaire type Selcen fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
925121000172114 dystrophie musculaire type Selcen fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3389781001000115 Muskeldystrophie Typ Selcen 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
Muscular dystrophy Selcen type (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Muscular dystrophy Selcen type (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Muscular dystrophy Selcen type (disorder) Is a Myofibrillar myopathy true Inferred relationship Existential restriction modifier (core metadata concept)
Muscular dystrophy Selcen type (disorder) 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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