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774148007: Polyglucosan body myopathy type 1 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3728138012 Polyglucosan body myopathy type 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3728139016 PGBM1 - polyglucosan body myopathy type 1 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3728140019 Polyglucosan body myopathy type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3727987012 A rare genetic glycogen storage disorder with characteristics of polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive usually dilated cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and auto-inflammation presenting with recurrent bacterial infections have also been reported. Caused by homozygous or compound heterozygous mutation in the RBCK1 gene on chromosome 20p13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3728138012 Polyglucosan body myopathy type 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3728139016 PGBM1 - polyglucosan body myopathy type 1 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3728140019 Polyglucosan body myopathy type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3727987012 A rare genetic glycogen storage disorder with characteristics of polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive usually dilated cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and auto-inflammation presenting with recurrent bacterial infections have also been reported. Caused by homozygous or compound heterozygous mutation in the RBCK1 gene on chromosome 20p13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3440591001000118 Polyglucosan-Körper-Myopathie Typ 1 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
940071000172115 myopathie à corps de polyglucosane type 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
962511000172112 PGBM1 - polyglucosan body myopathy type 1 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
940071000172115 myopathie à corps de polyglucosane type 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
962511000172112 PGBM1 - polyglucosan body myopathy type 1 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3440591001000118 Polyglucosan-Körper-Myopathie Typ 1 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
Polyglucosan body myopathy type 1 (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Polyglucosan body myopathy type 1 (disorder) Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Polyglucosan body myopathy type 1 (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Polyglucosan body myopathy type 1 (disorder) Is a Cardiomyopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Polyglucosan body myopathy type 1 (disorder) Is a Glycogen storage disease true Inferred relationship Existential restriction modifier (core metadata concept)
Polyglucosan body myopathy type 1 (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Polyglucosan body myopathy type 1 (disorder) Finding site Myocardium structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Polyglucosan body myopathy type 1 (disorder) Is a Metabolic myopathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Polyglucosan body myopathy type 1 (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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