240082006: Myopathy with abnormality of histochemical fiber type (disorder)

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

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type

\Muscle finding\Disorder of skeletal AND/OR smooth muscle (disorder)\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type

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

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type
\Disease\Disorder of skeletal AND/OR smooth muscle (disorder)\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Myopathy with abnormality of histochemical fibre type

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Myopathy with abnormality of histochemical fibre type	Is a	Congenital myopathy	false	Inferred relationship	Some
Myopathy with abnormality of histochemical fibre type	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Myopathy with abnormality of histochemical fibre type	Is a	Congenital anomaly of skeletal muscle	true	Inferred relationship	Some
Myopathy with abnormality of histochemical fibre type	Finding site	Skeletal muscle system structure	false	Inferred relationship	Some
Myopathy with abnormality of histochemical fibre type	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Myopathy with abnormality of histochemical fibre type	Occurrence	Congenital	false	Inferred relationship	Some
Myopathy with abnormality of histochemical fibre type	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Myopathy with abnormality of histochemical fibre type	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Myopathy with abnormality of histochemical fibre type	Occurrence	Congenital	false	Inferred relationship	Some	2
Myopathy with abnormality of histochemical fibre type	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Myopathy with abnormality of histochemical fibre type	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Myopathy with abnormality of histochemical fibre type	Occurrence	Congenital	true	Inferred relationship	Some	1
Myopathy with abnormality of histochemical fibre type	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Myopathy with abnormality of histochemical fibre type	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Myopathy with type I hypotrophy (disorder)	Is a	True	Myopathy with abnormality of histochemical fibre type	Inferred relationship	Some
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.	Is a	True	Myopathy with abnormality of histochemical fibre type	Inferred relationship	Some
Congenital myopathy with uniform fiber type	Is a	True	Myopathy with abnormality of histochemical fibre type	Inferred relationship	Some
A rare congenital myopathy characterized by neonatal onset of severe muscle weakness with selective atrophy/hypotrophy or absence of type II myofibers. Patients present at birth with hypotonia and respiratory failure, as well as mild facial and severe axial and proximal upper and lower limb weakness with areflexia and mild contractures. Eye movements and cardiac function are normal.	Is a	True	Myopathy with abnormality of histochemical fibre type	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
359685013	Myopathy with abnormality of histochemical fibre type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
359686014	Myopathy with abnormality of histochemical fiber type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
629176019	Myopathy with abnormality of histochemical fiber type (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1457101000005113	myopati med abnorm histokemisk fibertype	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)