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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/764525006
http://purl.bioontology.org/ontology/SNOMEDCT/764525006
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|---|---|
| Preferred Name | Cylindrical spirals myopathy |
| Definitions |
Cylindrical spirals myopathy is a rare form of congenital myopathy characterised by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibres) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated.
A rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsarcolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated.
Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated.
A rare form of congenital myopathy characterised by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsarcolemmal areas of muscle fibres) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated.
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| Synonyms |
Cylindrical spirals myopathy (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Cylindrical spirals myopathy is a rare form of congenital myopathy characterised by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibres) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated. A rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsarcolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated. Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated. A rare form of congenital myopathy characterised by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsarcolemmal areas of muscle fibres) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated. |
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| prefLabel | Cylindrical spirals myopathy
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| altLabel | Cylindrical spirals myopathy (disorder)
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| Type ID |
900000000000003001
900000000000013009
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| Semantic type UMLS property | |
| Has finding site | |
| Effective time | 20180731
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| cui | C4706943
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| Has pathological process | |
| CTV3ID | XV5PK
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| DEFINITION STATUS ID | 900000000000074008
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| CASE SIGNIFICANCE ID | 900000000000448009
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| Occurs in | |
| tui | T047
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| Active | 1
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| Has associated morphology | |
| notation | 764525006
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| type | |
| subClassOf | |
| Subset member | 447562003~MAPRULE~TRUE
447562003~MAPADVICE~ALWAYS G71.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
447562003~MAPTARGET~G71.2
6011000124106~MAPGROUP~1
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000497000~MAPTARGET~XV5PK
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
6011000124106~MAPADVICE~ALWAYS G71.29
447562003~MAPCATEGORYID~447637006
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPTARGET~G71.2
6011000124106~MAPRULE~TRUE
6011000124106~MAPTARGET~G71.29
6011000124106~MAPADVICE~ALWAYS G71.2
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