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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/780820008
http://purl.bioontology.org/ontology/SNOMEDCT/780820008
|
|---|---|
| Preferred Name | Isolated ATP synthase deficiency |
| Definitions |
A rare genetic mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes including Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome and Maternally inherited Leigh (MILS) syndrome.
Isolated ATP synthase deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS).
|
| Synonyms |
Isolated adenosine triphosphate synthase deficiency (disorder)
Isolated mitochondrial respiratory chain complex V deficiency
Isolated adenosine triphosphate synthase deficiency
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A rare genetic mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes including Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome and Maternally inherited Leigh (MILS) syndrome. Isolated ATP synthase deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS). |
|---|---|
| altLabel |
Isolated adenosine triphosphate synthase deficiency (disorder)
Isolated mitochondrial respiratory chain complex V deficiency
Isolated adenosine triphosphate synthase deficiency
|
| prefLabel | Isolated ATP synthase deficiency
|
| Type ID |
900000000000003001
900000000000013009
|
| CASE SIGNIFICANCE ID |
900000000000020002
900000000000448009
|
| notation | 780820008
|
| Effective time | 20190131
|
| Active | 1
|
| subClassOf | |
| Semantic type UMLS property | |
| type | |
| Subset member | 6011000124106~MAPTARGET~E88.49
447562003~MAPRULE~TRUE
900000000000497000~MAPTARGET~XV9UO
6011000124106~MAPGROUP~1
6011000124106~MAPADVICE~ALWAYS E88.49 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~MAPTARGET~E88.8
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPPRIORITY~1
447562003~MAPADVICE~ALWAYS E88.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
900000000000509007~ACCEPTABILITYID~900000000000549004
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| DEFINITION STATUS ID | 900000000000074008
|
| tui | T047
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| CTV3ID | XV9UO
|
| Occurs in | |
| cui | C4757950
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