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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/1236844002
http://purl.bioontology.org/ontology/SNOMEDCT/1236844002
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|---|---|
| Preferred Name | Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome |
| Definitions |
A rare congenital myopathy with characteristics of early onset of severe muscular weakness, respiratory distress due to diaphragmatic paralysis, dysphagia and areflexia, joint contractures and scoliosis. Decreased fetal movements are seen in some individuals. Muscle biopsy may show a combination of dystrophic and myopathic features. The clinical course is variable, with some patients becoming ventilator-dependent and never achieving ambulation.
A rare congenital myopathy characterised by early onset of severe muscular weakness, respiratory distress due to diaphragmatic paralysis, dysphagia and areflexia, joint contractures, and scoliosis. Decreased fetal movements are seen in some individuals. Muscle biopsy may show a combination of dystrophic and myopathic features. The clinical course is variable, with some patients becoming ventilator-dependent and never achieving ambulation.
A rare congenital myopathy characterized by early onset of severe muscular weakness, respiratory distress due to diaphragmatic paralysis, dysphagia and areflexia, joint contractures, and scoliosis. Decreased fetal movements are seen in some individuals. Muscle biopsy may show a combination of dystrophic and myopathic features. The clinical course is variable, with some patients becoming ventilator-dependent and never achieving ambulation.
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| Synonyms |
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
EMARDD (early-onset myopathy, areflexia, respiratory distress, dysphagia) syndrome
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A rare congenital myopathy with characteristics of early onset of severe muscular weakness, respiratory distress due to diaphragmatic paralysis, dysphagia and areflexia, joint contractures and scoliosis. Decreased fetal movements are seen in some individuals. Muscle biopsy may show a combination of dystrophic and myopathic features. The clinical course is variable, with some patients becoming ventilator-dependent and never achieving ambulation. A rare congenital myopathy characterised by early onset of severe muscular weakness, respiratory distress due to diaphragmatic paralysis, dysphagia and areflexia, joint contractures, and scoliosis. Decreased fetal movements are seen in some individuals. Muscle biopsy may show a combination of dystrophic and myopathic features. The clinical course is variable, with some patients becoming ventilator-dependent and never achieving ambulation. A rare congenital myopathy characterized by early onset of severe muscular weakness, respiratory distress due to diaphragmatic paralysis, dysphagia and areflexia, joint contractures, and scoliosis. Decreased fetal movements are seen in some individuals. Muscle biopsy may show a combination of dystrophic and myopathic features. The clinical course is variable, with some patients becoming ventilator-dependent and never achieving ambulation. |
|---|---|
| prefLabel | Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome
|
| altLabel |
Early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome (disorder)
EMARDD (early-onset myopathy, areflexia, respiratory distress, dysphagia) syndrome
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| Type ID |
900000000000003001
900000000000013009
|
| Semantic type UMLS property | |
| Has finding site | |
| Effective time | 20220831
|
| cui | C3280679
|
| Has pathological process | |
| CTV3ID | XVIuI
|
| DEFINITION STATUS ID | 900000000000074008
|
| CASE SIGNIFICANCE ID |
900000000000448009
900000000000017005
|
| Occurs in | |
| tui | T047
|
| Active | 1
|
| Has associated morphology | |
| notation | 1236844002
|
| type | |
| subClassOf | |
| Subset member | 447562003~MAPRULE~TRUE
6011000124106~MAPTARGET~R29.2
447562003~MAPADVICE~ALWAYS G71.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPADVICE~ALWAYS R29.2
447562003~MAPTARGET~G71.2
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPTARGET~R06.03
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
6011000124106~MAPADVICE~ALWAYS G71.29
447562003~MAPCATEGORYID~447637006
900000000000497000~MAPTARGET~XVIuI
6011000124106~MAPRULE~OTHERWISE TRUE
6011000124106~MAPTARGET~R13.10
6011000124106~MAPGROUP~4
6011000124106~MAPCATEGORYID~447639009
6011000124106~MAPADVICE~ALWAYS R06.03
6011000124106~MAPPRIORITY~1
6011000124106~MAPTARGET~P22.9
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~IFA 445518008 | Age at onset of clinical finding (observable entity) | < 29.0 days
6011000124106~MAPADVICE~ALWAYS R13.10 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPRULE~TRUE
6011000124106~MAPTARGET~G71.29
6011000124106~MAPGROUP~3
6011000124106~MAPADVICE~IF AGE AT ONSET OF CLINICAL FINDING BEFORE 29.0 DAYS CHOOSE P22.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
900000000000509007~ACCEPTABILITYID~900000000000549004
6011000124106~MAPPRIORITY~2
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