Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome   718713000

SNOMED CT code


SNOMED code718713000
nameHypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder)
synonymsHypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteSkeletal muscle structure   127954009
Associated morphologyMorphologically abnormal structure   49755003
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyHypertrophy   56246009
Finding siteMyocardium structure   74281007
attributes - group3
Due toMitochondrial cytopathy   240096000
parents
  • Congenital anomaly of myocardium   204394002
  • Cardiovascular system hereditary disorder   363005004
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Hypertrophic mitochondrial cardiomyopathy   472316006
  • Secondary myopathy   60738003
  • Autosomal recessive hereditary disorder   85995004
  • Congenital anomaly of skeletal muscle   89886004
  • Lactic acidosis   91273001
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Cardiac finding   301095005
        Myocardial finding   251052000
          Myocardial disease   57809008
            Congenital anomaly of myocardium   204394002
              Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome   718713000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Disorder of cardiovascular system   49601007
        Cardiovascular system hereditary disorder   363005004
          Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome   718713000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome   718713000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome   718713000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Cardiac finding   301095005
        Heart disease   56265001
          Cardiac complication   40172005
            Mitochondrial cardiomyopathy   472315005
              Hypertrophic mitochondrial cardiomyopathy   472316006
                Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome   718713000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Muscle finding   106030000
      Disorder of muscle   129565002
        Secondary myopathy   60738003
          Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome   718713000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome   718713000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Muscle finding   106030000
      Disorder of muscle   129565002
        Disorder of skeletal muscle   75047002
          Congenital anomaly of skeletal muscle   89886004
            Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome   718713000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of acid-base balance   26436007
          Acidosis   51387008
            Metabolic acidosis   59455009
              Metabolic acidosis, increased anion gap (IAG)   25998009
                Metabolic acidosis, IAG, accumulation of organic acids   51294009
                  Lactic acidosis   91273001
                    Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome   718713000

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