Autosomal recessive hereditary disorder
Autosomal recessive hereditary disorder
Cardiovascular system hereditary disorder
Cardiovascular system hereditary disorder
Congenital anomaly of myocardium
Congenital anomaly of skeletal muscle
Congenital anomaly of skeletal muscle
Developmental hereditary disorder
Hereditary disorder of musculoskeletal system
Hereditary disorder of musculoskeletal system
Hereditary metabolic disease
Hereditary myopathy
Hypertrophic mitochondrial cardiomyopathy
Hypertrophic mitochondrial cardiomyopathy
Lactic acidosis
Lactic acidosis
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Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder)
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
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.
syndroom van hypertrofische cardiomyopathie met hypotonie en lactaatacidose
Id718713000
StatusPrimitive
Due toMitochondrial cytopathy
Due toMitochondrial cytopathy
Associated morphologyMorphologically abnormal structure
Finding siteSkeletal muscle structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyHypertrophy
Finding siteMyocardium structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG71.3
RuleTRUE
AdviceALWAYS G71.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified