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SNOMED CT
Last uploaded:
August 28, 2024
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| Preferred Name | Hypertrophic mitochondrial cardiomyopathy | |
| Synonyms |
Hypertrophic mitochondrial cardiomyopathy (disorder) |
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| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/472316006 |
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| Active |
1
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| altLabel |
Hypertrophic mitochondrial cardiomyopathy (disorder)
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| CASE SIGNIFICANCE ID |
900000000000448009
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| CTV3ID |
XUlfq
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| cui |
C3532240
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| DEFINITION STATUS ID |
900000000000073002
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| Due to | ||
| Effective time |
20170131
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| Has associated morphology | ||
| Has finding site | ||
| notation |
472316006
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| prefLabel |
Hypertrophic mitochondrial cardiomyopathy
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| Subset member |
6011000124106~MAPADVICE~IF HYPERTROPHIC CARDIOMYOPATHY WITH HYPOTONIA AND LACTIC ACIDOSIS SYNDROME CHOOSE I42.2 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~N25.9 6011000124106~MAPTARGET~E88.40 6011000124106~MAPPRIORITY~11 447562003~MAPTARGET~I42.2 6011000124106~MAPADVICE~IF HYPERTROPHIC MITOCHONDRIAL CARDIOMYOPATHY ASSOCIATED WITH CATARACTS AND LACTIC ACIDOSIS CHOOSE H26.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~E88.49 447562003~MAPRULE~TRUE 6011000124106~MAPRULE~IFA 775908005 | Combined oxidative phosphorylation defect type 17 | 6011000124106~MAPADVICE~IF HYPERTROPHIC CARDIOMYOPATHY AND RENAL TUBULAR DISEASE DUE TO MITOCHONDRIAL DNA MUTATION CHOOSE E88.49 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 472318007 | Hypertrophic mitochondrial cardiomyopathy associated with cataracts and lactic acidosis | 447562003~MAPADVICE~IF HYPERTROPHIC MITOCHONDRIAL CARDIOMYOPATHY ASSOCIATED WITH CATARACTS AND LACTIC ACIDOSIS CHOOSE I42.2 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION 6011000124106~MAPTARGET~Q12.0 6011000124106~MAPPRIORITY~7 6011000124106~MAPPRIORITY~4 6011000124106~MAPADVICE~IF CONGENITAL CATARACT, HYPERTROPHIC CARDIOMYOPATHY, MITOCHONDRIAL MYOPATHY SYNDROME CHOOSE Q24.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 1186718008 | Neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome | 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA 6011000124106~MAPRULE~IFA 771513008 | Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency | 6011000124106~MAPTARGET~P91.819 6011000124106~MAPTARGET~ 6011000124106~MAPCATEGORYID~447638001 6011000124106~MAPADVICE~IF HYPERTROPHIC CARDIOMYOPATHY WITH HYPOTONIA AND LACTIC ACIDOSIS SYNDROME AND IF AGE AT ONSET OF CLINICAL FINDING BEFORE 29.0 DAYS CHOOSE P94.2 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 900000000000497000~MAPTARGET~XUlfq 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 6011000124106~MAPTARGET~G71.3 6011000124106~MAPTARGET~H26.9 6011000124106~MAPADVICE~IF HYPERTROPHIC CARDIOMYOPATHY WITH HYPOTONIA AND LACTIC ACIDOSIS SYNDROME AND IF AGE AT ONSET OF CLINICAL FINDING BEFORE 29.0 DAYS CHOOSE P84 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF NEONATAL ENCEPHALOMYOPATHY, CARDIOMYOPATHY, RESPIRATORY DISTRESS SYNDROME CHOOSE P22.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~10 6011000124106~MAPRULE~IFA 1197430005 | QRSL1-related combined oxidative phosphorylation defect | 6011000124106~MAPADVICE~IF MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY CHOOSE E88.49 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF HYPERTROPHIC MITOCHONDRIAL CARDIOMYOPATHY ASSOCIATED WITH CATARACTS AND LACTIC ACIDOSIS CHOOSE E87.20 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~8 6011000124106~MAPADVICE~IF INFANTILE HYPERTROPHIC CARDIOMYOPATHY DUE TO MRPL44 DEFICIENCY CHOOSE E88.40 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPADVICE~ALWAYS I42.2 447562003~MAPGROUP~1 6011000124106~MAPTARGET~P22.8 6011000124106~MAPRULE~IFA 763280005 | Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome | 447562003~CORRELATIONID~447561005 6011000124106~MAPADVICE~IF HYPERTROPHIC CARDIOMYOPATHY WITH HYPOTONIA AND LACTIC ACIDOSIS SYNDROME CHOOSE M62.89 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPRULE~OTHERWISE TRUE 6011000124106~MAPTARGET~M62.89 6011000124106~MAPADVICE~IF HYPERTROPHIC CARDIOMYOPATHY AND RENAL TUBULAR DISEASE DUE TO MITOCHONDRIAL DNA MUTATION CHOOSE I42.2 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~Q24.8 6011000124106~MAPADVICE~IF HYPERTROPHIC CARDIOMYOPATHY WITH HYPOTONIA AND LACTIC ACIDOSIS SYNDROME CHOOSE E87.20 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPCATEGORYID~447637006 6011000124106~MAPRULE~IFA 472318007 | Hypertrophic mitochondrial cardiomyopathy associated with cataracts and lactic acidosis (disorder) | 6011000124106~MAPTARGET~I42.2 900000000000509007~ACCEPTABILITYID~900000000000548007 6011000124106~MAPRULE~IFA 718713000 | Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome | AND IFA 445518008 | Age at onset of clinical finding (observable entity) | < 29.0 days 6011000124106~MAPADVICE~IF NEONATAL ENCEPHALOMYOPATHY, CARDIOMYOPATHY, RESPIRATORY DISTRESS SYNDROME CHOOSE P91.819 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF CONGENITAL CATARACT, HYPERTROPHIC CARDIOMYOPATHY, MITOCHONDRIAL MYOPATHY SYNDROME CHOOSE G71.3 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 900000000000508004~ACCEPTABILITYID~900000000000548007 6011000124106~MAPTARGET~Q07.9 6011000124106~MAPADVICE~IF MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY CHOOSE E87.2 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF HYPERTROPHIC MITOCHONDRIAL CARDIOMYOPATHY ASSOCIATED WITH CATARACTS AND LACTIC ACIDOSIS CHOOSE E87.2 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPPRIORITY~1 6011000124106~MAPADVICE~IF HYPERTROPHIC CARDIOMYOPATHY WITH HYPOTONIA AND LACTIC ACIDOSIS SYNDROME CHOOSE E87.2 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~I42.8 447562003~MAPCATEGORYID~447637006 6011000124106~MAPRULE~IFA 771509001 | Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation | 6011000124106~MAPRULE~IFA 718713000 | Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | 6011000124106~MAPRULE~OTHERWISE TRUE 6011000124106~MAPPRIORITY~5 6011000124106~MAPADVICE~IF NEONATAL ENCEPHALOMYOPATHY, CARDIOMYOPATHY, RESPIRATORY DISTRESS SYNDROME CHOOSE I42.8 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPGROUP~4 6011000124106~MAPADVICE~IF MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY CHOOSE E87.20 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF QRSL1-RELATED COMBINED OXIDATIVE PHOSPHORYLATION DEFECT CHOOSE E88.49 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~9 6011000124106~MAPCATEGORYID~447639009 6011000124106~MAPRULE~IFA 717812000 | Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder) | 6011000124106~MAPADVICE~IF HYPERTROPHIC MITOCHONDRIAL CARDIOMYOPATHY ASSOCIATED WITH CATARACTS AND LACTIC ACIDOSIS CHOOSE I42.2 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~P84 6011000124106~MAPADVICE~ALWAYS I42.2 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE 447562003~MAPCATEGORYID~447639009 447562003~MAPRULE~IFA 472318007 | Hypertrophic mitochondrial cardiomyopathy associated with cataracts and lactic acidosis (disorder) | 6011000124106~MAPADVICE~IF HYPERTROPHIC MITOCHONDRIAL CARDIOMYOPATHY ASSOCIATED WITH CATARACTS AND LACTIC ACIDOSIS CHOOSE I42.8 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~1 6011000124106~MAPTARGET~P94.2 6011000124106~MAPPRIORITY~6 6011000124106~CORRELATIONID~447561005 6011000124106~MAPADVICE~IF MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY CHOOSE I42.2 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 718713000 | Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome | 6011000124106~MAPADVICE~IF COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 17 CHOOSE E88.49 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 717812000 | Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome | 6011000124106~MAPADVICE~IF ENCEPHALOPATHY, HYPERTROPHIC CARDIOMYOPATHY, RENAL TUBULAR DISEASE SYNDROME CHOOSE Q24.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPPRIORITY~2 6011000124106~MAPRULE~TRUE 6011000124106~MAPADVICE~IF CONGENITAL CATARACT, HYPERTROPHIC CARDIOMYOPATHY, MITOCHONDRIAL MYOPATHY SYNDROME CHOOSE Q12.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPGROUP~3 6011000124106~MAPRULE~IFA 718713000 | Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) | AND IFA 445518008 | Age at onset of clinical finding (observable entity) | < 29.0 days 6011000124106~MAPRULE~IFA 771478008 | Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | 6011000124106~MAPTARGET~E87.20 6011000124106~MAPPRIORITY~3 6011000124106~MAPADVICE~IF INFANTILE HYPERTROPHIC CARDIOMYOPATHY DUE TO MRPL44 DEFICIENCY CHOOSE I42.2 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~2 6011000124106~MAPADVICE~IF ENCEPHALOPATHY, HYPERTROPHIC CARDIOMYOPATHY, RENAL TUBULAR DISEASE SYNDROME CHOOSE Q07.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF ENCEPHALOPATHY, HYPERTROPHIC CARDIOMYOPATHY, RENAL TUBULAR DISEASE SYNDROME CHOOSE N25.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~E87.2 6011000124106~MAPADVICE~IF HYPERTROPHIC CARDIOMYOPATHY AND RENAL TUBULAR DISEASE DUE TO MITOCHONDRIAL DNA MUTATION CHOOSE N25.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
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| tui |
T047
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| Type ID |
900000000000003001 900000000000013009
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| subClassOf |
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| Mapping To | Ontology | Source |
|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/590040 | OMIM | CUI |
| http://purl.bioontology.org/ontology/SCTSPA/472316006 | SCTSPA | CUI |