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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/716696006
http://purl.bioontology.org/ontology/SNOMEDCT/716696006
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|---|---|
| Preferred Name | Autosomal dominant centronuclear myopathy |
| Definitions |
A rare, autosomal dominant congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy (hypotonia, distal/proximal muscle weakness, rib cage deformities sometimes associated with respiratory insufficiency), ptosis, ophthalmoparesis and weakness of the muscles of facial expression with dysmorphic facial features.
An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. The exact prevalence remains unknown. Most commonly, the age of onset is in adolescence, although earlier presentations in infancy or childhood have been reported. Muscle weakness of variable severity is the major clinical manifestation. Mutations in the dynamin 2 (DNM2) gene on chromosome 19p13.2 are responsible.
A rare, autosomal dominant congenital myopathy characterised by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy (hypotonia, distal/proximal muscle weakness, rib cage deformities sometimes associated with respiratory insufficiency), ptosis, ophthalmoparesis and weakness of the muscles of facial expression with dysmorphic facial features.
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| Synonyms |
Autosomal dominant centronuclear myopathy (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A rare, autosomal dominant congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy (hypotonia, distal/proximal muscle weakness, rib cage deformities sometimes associated with respiratory insufficiency), ptosis, ophthalmoparesis and weakness of the muscles of facial expression with dysmorphic facial features. An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. The exact prevalence remains unknown. Most commonly, the age of onset is in adolescence, although earlier presentations in infancy or childhood have been reported. Muscle weakness of variable severity is the major clinical manifestation. Mutations in the dynamin 2 (DNM2) gene on chromosome 19p13.2 are responsible. A rare, autosomal dominant congenital myopathy characterised by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy (hypotonia, distal/proximal muscle weakness, rib cage deformities sometimes associated with respiratory insufficiency), ptosis, ophthalmoparesis and weakness of the muscles of facial expression with dysmorphic facial features. |
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| prefLabel | Autosomal dominant centronuclear myopathy
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| altLabel | Autosomal dominant centronuclear myopathy (disorder)
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| Type ID |
900000000000003001
900000000000013009
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| Semantic type UMLS property | |
| Has finding site | |
| Effective time | 20160731
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| cui | C1834558
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| Has pathological process | |
| CTV3ID | XUtbQ
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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 | 716696006
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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
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPTARGET~G71.228
6011000124106~MAPPRIORITY~1
900000000000497000~MAPTARGET~XUtbQ
6011000124106~CORRELATIONID~447561005
6011000124106~MAPTARGET~G71.2
6011000124106~MAPADVICE~ALWAYS G71.228
6011000124106~MAPRULE~TRUE
6011000124106~MAPADVICE~ALWAYS G71.2
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