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240084007: Congenital myopathy with fiber type disproportion (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
359688010 Congenital myopathy with fibre type disproportion en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
359689019 Congenital myopathy with fiber type disproportion en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
629178018 Congenital myopathy with fiber type disproportion (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4945916010 A rare genetic congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Limb weakness may be greatest in the limb girdle and proximal limb muscles, but weakness is never solely distal. Facial weakness is often present, resulting in a long face, high-arched palate, and tented upper lip. Histologically, there is a characteristic (but not specific) reduction in the caliber of type 1 muscle fibres. Type 1 muscle fibres are predominant compared to type 2 fibres, which are either normal or hypertrophied. Causative mutations have been identified more frequently in 4 genes, ACTA1 (1q42.13), RYR1 (19q13.2), TPM3 (1q21.3), and SELENON (1p36.11). For the majority of cases the pattern of inheritance is either autosomal recessive or autosomal dominant. X-linked inheritance has been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4945917018 A rare genetic congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Limb weakness may be greatest in the limb girdle and proximal limb muscles, but weakness is never solely distal. Facial weakness is often present, resulting in a long face, high-arched palate, and tented upper lip. Histologically, there is a characteristic (but not specific) reduction in the caliber of type 1 muscle fibers. Type 1 muscle fibers are predominant compared to type 2 fibers, which are either normal or hypertrophied. Causative mutations have been identified more frequently in 4 genes, ACTA1 (1q42.13), RYR1 (19q13.2), TPM3 (1q21.3), and SELENON (1p36.11). For the majority of cases the pattern of inheritance is either autosomal recessive or autosomal dominant. X-linked inheritance has been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
359688010 Congenital myopathy with fibre type disproportion en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
359688010 Congenital myopathy with fibre type disproportion en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
359689019 Congenital myopathy with fiber type disproportion en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
359689019 Congenital myopathy with fiber type disproportion en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
629178018 Congenital myopathy with fiber type disproportion (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
629178018 Congenital myopathy with fiber type disproportion (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4945916010 A rare genetic congenital non-dystrophic myopathy characterised by neonatal or infantile-onset hypotonia and mild to severe generalised muscle weakness. Limb weakness may be greatest in the limb girdle and proximal limb muscles, but weakness is never solely distal. Facial weakness is often present, resulting in a long face, high-arched palate, and tented upper lip. Histologically, there is a characteristic (but not specific) reduction in the caliber of type 1 muscle fibres. Type 1 muscle fibres are predominant compared to type 2 fibres, which are either normal or hypertrophied. Causative mutations have been identified more frequently in 4 genes, ACTA1 (1q42.13), RYR1 (19q13.2), TPM3 (1q21.3), and SELENON (1p36.11). For the majority of cases the pattern of inheritance is either autosomal recessive or autosomal dominant. X-linked inheritance has been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4945917018 A rare genetic congenital non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness. Limb weakness may be greatest in the limb girdle and proximal limb muscles, but weakness is never solely distal. Facial weakness is often present, resulting in a long face, high-arched palate, and tented upper lip. Histologically, there is a characteristic (but not specific) reduction in the caliber of type 1 muscle fibers. Type 1 muscle fibers are predominant compared to type 2 fibers, which are either normal or hypertrophied. Causative mutations have been identified more frequently in 4 genes, ACTA1 (1q42.13), RYR1 (19q13.2), TPM3 (1q21.3), and SELENON (1p36.11). For the majority of cases the pattern of inheritance is either autosomal recessive or autosomal dominant. X-linked inheritance has been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3389391001000116 Myopathie, kongenitale, mit Fasertyp-Disproportion de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5036651000241119 myopathie congénitale avec disproportion des types de fibres musculaires fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5036651000241119 myopathie congénitale avec disproportion des types de fibres musculaires fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3389391001000116 Myopathie, kongenitale, mit Fasertyp-Disproportion de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

11 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital myopathy with fibre type disproportion Is a Myopathy with abnormality of histochemical fibre type true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital myopathy with fibre type disproportion Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital myopathy with fibre type disproportion Is a Disorder of skeletal muscle false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital myopathy with fibre type disproportion Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital myopathy with fibre type disproportion Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital myopathy with fibre type disproportion Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital myopathy with fibre type disproportion Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital myopathy with fibre type disproportion Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital myopathy with fibre type disproportion Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital myopathy with fibre type disproportion Finding site Skeletal muscle structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital myopathy with fibre type disproportion Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital myopathy with fibre type disproportion Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital myopathy with fibre type disproportion Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital myopathy with fibre type disproportion Is a Genetic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital fiber-type disproportion myopathy due to ZAK mutation Is a True Congenital myopathy with fibre type disproportion Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fiber-type disproportion myopathy due to SELENON mutation Is a True Congenital myopathy with fibre type disproportion Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation (disorder) Is a True Congenital myopathy with fibre type disproportion Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fibre-type disproportion myopathy due to TPM3 mutation Is a True Congenital myopathy with fibre type disproportion Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fiber-type disproportion myopathy due to MYH7 mutation Is a True Congenital myopathy with fibre type disproportion Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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