loading...| Preferred Name |
Myotonia congenita |
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| Synonyms |
Congenital myotonia Myotonia congenita (disorder) |
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| Definitions |
A disorder of the skeletal muscles with childhood onset of myotonia. The myotonia most often occurs in the legs and can interfere with movement. There are two major forms of this disease Thomsen disease and Becker disease. These conditions are distinguished by the severity of their symptoms and their patterns of inheritance. The disease is caused by mutations in the CLCN1 gene. Mutations in this gene alter the usual structure or function of chloride channels. This disruption in chloride ion flow triggers prolonged muscle contractions. |
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| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/726051002 |
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| Active |
1 |
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| altLabel |
Congenital myotonia Myotonia congenita (disorder) |
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| CASE SIGNIFICANCE ID |
900000000000448009 |
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| CTV3ID |
XUvjV |
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| cui |
C2936781 |
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| definition |
A disorder of the skeletal muscles with childhood onset of myotonia. The myotonia most often occurs in the legs and can interfere with movement. There are two major forms of this disease Thomsen disease and Becker disease. These conditions are distinguished by the severity of their symptoms and their patterns of inheritance. The disease is caused by mutations in the CLCN1 gene. Mutations in this gene alter the usual structure or function of chloride channels. This disruption in chloride ion flow triggers prolonged muscle contractions. |
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| DEFINITION STATUS ID |
900000000000074008 |
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| Effective time |
20170731 |
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| Has finding site | ||
| notation |
726051002 |
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| Occurs in | ||
| prefLabel |
Myotonia congenita |
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| Subset member |
6011000124106~MAPADVICE~ALWAYS G71.12 447562003~MAPRULE~TRUE 900000000000497000~MAPTARGET~XUvjV 6011000124106~MAPGROUP~1 6011000124106~MAPADVICE~IF SCHWARTZ-JAMPEL SYNDROME CHOOSE G71.13 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~G71.12 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPTARGET~G71.13 447562003~MAPTARGET~G71.1 6011000124106~MAPRULE~OTHERWISE TRUE 6011000124106~MAPCATEGORYID~447639009 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE 447562003~MAPADVICE~ALWAYS G71.1 | POSSIBLE REQUIREMENT FOR AN EXTERNAL CAUSE CODE 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPPRIORITY~2 6011000124106~MAPRULE~IFA 29145002 | Schwartz-Jampel syndrome | |
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| tui |
T047 |
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| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |