Preferred Name |
Congenital myopathy with abnormal subcellular organelles |
|
Synonyms |
Congenital myopathy with abnormal subcellular organelles (disorder) |
|
ID |
http://purl.bioontology.org/ontology/SNOMEDCT/68186003 |
|
Active |
1 |
|
altLabel |
Congenital myopathy with abnormal subcellular organelles (disorder) |
|
CASE SIGNIFICANCE ID |
900000000000020002 900000000000448009 |
|
CTV3ID |
XUItt |
|
cui |
C0270966 |
|
DEFINITION STATUS ID |
900000000000074008 |
|
Effective time |
20020131 |
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Has associated morphology | ||
Has finding site | ||
Has pathological process | ||
notation |
68186003 |
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Occurs in | ||
prefLabel |
Congenital myopathy with abnormal subcellular organelles |
|
Subset member |
6011000124106~MAPRULE~IFA 702382000 | Inclusion body myopathy 2 (disorder) | 6011000124106~MAPRULE~IFA 703544004 | Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia | 447562003~MAPRULE~TRUE 6011000124106~MAPTARGET~M24.50 6011000124106~MAPADVICE~IF HEREDITARY INCLUSION BODY MYOPATHY, JOINT CONTRACTURE, OPHTHALMOPLEGIA SYNDROME CHOOSE G72.41 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~4 6011000124106~MAPADVICE~IF HEREDITARY INCLUSION BODY MYOPATHY, JOINT CONTRACTURE, OPHTHALMOPLEGIA SYNDROME CHOOSE M24.50 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY CHOOSE G71.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPTARGET~G71.2 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA 6011000124106~MAPTARGET~ 6011000124106~MAPCATEGORYID~447638001 6011000124106~MAPADVICE~IF INCLUSION BODY MYOPATHY 2 CHOOSE G72.89 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 6011000124106~MAPRULE~IFA 703544004 | Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (disorder) | 447562003~MAPADVICE~ALWAYS G71.2 900000000000497000~MAPTARGET~XUItt 6011000124106~MAPRULE~IFA 719815005 | X-linked myopathy with excessive autophagy (disorder) | 6011000124106~MAPADVICE~IF HEREDITARY INCLUSION BODY MYOPATHY, JOINT CONTRACTURE, OPHTHALMOPLEGIA SYNDROME CHOOSE H49.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPRULE~IFA 719815005 | X-linked myopathy with excessive autophagy | 6011000124106~MAPCATEGORYID~447637006 6011000124106~MAPRULE~IFA 702382000 | Inclusion body myopathy 2 | 900000000000509007~ACCEPTABILITYID~900000000000548007 6011000124106~MAPADVICE~IF INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA CHOOSE F02.80 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 900000000000508004~ACCEPTABILITYID~900000000000548007 6011000124106~MAPTARGET~G71.9 447562003~MAPPRIORITY~1 6011000124106~MAPADVICE~ALWAYS G71.29 6011000124106~MAPTARGET~G72.41 447562003~MAPCATEGORYID~447637006 6011000124106~MAPRULE~OTHERWISE TRUE 6011000124106~MAPTARGET~F02.80 6011000124106~MAPGROUP~4 6011000124106~MAPADVICE~IF INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA CHOOSE M88.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~G72.89 6011000124106~MAPADVICE~IF INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA CHOOSE G31.09 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPCATEGORYID~447639009 6011000124106~MAPTARGET~M88.9 6011000124106~MAPTARGET~G31.09 6011000124106~MAPTARGET~H49.9 6011000124106~MAPPRIORITY~1 6011000124106~MAPRULE~IFA 724349009 | Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome | 6011000124106~CORRELATIONID~447561005 6011000124106~MAPTARGET~G71.2 6011000124106~MAPRULE~TRUE 6011000124106~MAPTARGET~G71.29 6011000124106~MAPGROUP~3 6011000124106~MAPPRIORITY~3 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPPRIORITY~2 6011000124106~MAPADVICE~ALWAYS G71.2 |
|
tui |
T047 |
|
Type ID |
900000000000003001 900000000000013009 |
|
subClassOf |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.bioontology.org/ontology/SCTSPA/68186003 | SCTSPA | CUI | |
http://purl.bioontology.org/ontology/SNMI/DA-51560 | SNMI | CUI |