Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency   771513008

SNOMED CT code


SNOMED code771513008
nameInfantile hypertrophic cardiomyopathy due to MRPL44 deficiency
statusactive
date introduced2019-01-31
fully specified name(s)Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency (disorder)
synonyms
  • Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency
  • Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
  • Combined oxidative phosphorylation defect type 16
attributes - group2
Due toMitochondrial cytopathy   240096000
attributes - group1
Finding siteMyocardium structure   74281007
Associated morphologyHypertrophy   56246009
parents
  • Mitochondrial cytopathy   240096000
  • Cardiovascular system hereditary disorder   363005004
  • Hypertrophic mitochondrial cardiomyopathy   472316006
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Mitochondrial cytopathy   240096000
          Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency   771513008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Disorder of cardiovascular system   49601007
        Cardiovascular system hereditary disorder   363005004
          Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency   771513008

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
                Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency   771513008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency   771513008

ancestors
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