Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation   1010400009

SNOMED CT code


SNOMED code1010400009
nameGenetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation
statusactive
date introduced2021-01-31
fully specified name(s)Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation (finding)
synonyms
  • Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation positive
  • Genetic susceptibility to malignant hyperthermia due to RYR1 (ryanodine receptor 1) gene mutation positive
  • Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation
attributes - group2
InterpretsGenetic test   405824009
Has interpretationDetected   260373001
parents
  • Genetic finding detected   412731001
  • Malignant hyperthermia genetic susceptibility   890189007
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Procedure related finding   127325009
      Evaluation finding   441742003
        Genetic finding   106221001
          Genetic finding detected   412731001
            Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation   1010400009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Procedure related finding   127325009
      Evaluation finding   441742003
        Genetic finding   106221001
          Genetic predisposition   47708004
            Genetic susceptibility to genetic disorder   71951000119107
              Malignant hyperthermia genetic susceptibility   890189007
                Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation   1010400009

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