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SNOMED CT
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/SNOMEDCT/718713000
http://purl.bioontology.org/ontology/SNOMEDCT/718713000
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| Preferred Name | Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome |
| Definitions |
This syndrome has characteristics of hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a non-consanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.
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| Synonyms |
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | This syndrome has characteristics of hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a non-consanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter. |
|---|---|
| altLabel | Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder)
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| prefLabel | Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID | 900000000000448009
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| notation | 718713000
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| Due to | |
| Effective time | 20170131
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| Active | 1
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| Has finding site | |
| Has pathological process | |
| subClassOf |
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| Semantic type UMLS property | |
| type | |
| Subset member | 6011000124106~MAPADVICE~ALWAYS E87.2
447562003~MAPRULE~TRUE
6011000124106~MAPADVICE~ALWAYS E87.20 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
447562003~MAPTARGET~G71.3
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
447562003~MAPADVICE~ALWAYS G71.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPADVICE~ALWAYS M62.89
447562003~MAPGROUP~1
6011000124106~MAPADVICE~IF AGE AT ONSET OF CLINICAL FINDING BEFORE 29.0 DAYS CHOOSE P84 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
447562003~CORRELATIONID~447561005
6011000124106~MAPTARGET~M62.89
6011000124106~MAPCATEGORYID~447637006
6011000124106~MAPTARGET~I42.2
900000000000509007~ACCEPTABILITYID~900000000000548007
6011000124106~MAPADVICE~IF AGE AT ONSET OF CLINICAL FINDING BEFORE 29.0 DAYS CHOOSE P94.2 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPRULE~OTHERWISE TRUE
6011000124106~MAPCATEGORYID~447639009
6011000124106~MAPTARGET~P84
6011000124106~MAPADVICE~ALWAYS I42.2 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPPRIORITY~1
6011000124106~MAPTARGET~P94.2
900000000000497000~MAPTARGET~XUts2
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~IFA 445518008 | Age at onset of clinical finding (observable entity) | < 29.0 days
6011000124106~MAPRULE~TRUE
6011000124106~MAPGROUP~3
6011000124106~MAPTARGET~E87.20
6011000124106~MAPPRIORITY~2
6011000124106~MAPTARGET~E87.2
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | XUts2
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| Occurs in | |
| cui | C4305259
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| Has associated morphology |
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