Congenital generalized hypercontractile muscle stiffness syndrome   1174000008

SNOMED CT code


SNOMED code1174000008
nameCongenital generalized hypercontractile muscle stiffness syndrome
statusactive
date introduced2021-09-30
fully specified name(s)Congenital generalized hypercontractile muscle stiffness syndrome (disorder)
synonyms
  • Congenital generalized hypercontractile muscle stiffness syndrome
  • Congenital generalised hypercontractile muscle stiffness syndrome
attributes - group3
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group1
InterpretsBody height measure   50373000
Has interpretationBelow reference range   281300000
attributes - group2
OccurrenceCongenital   255399007
Finding siteSkeletal muscle structure   127954009
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of general physiological development   271616002
      Disorder of stature   237834000
        Short stature disorder   237836003
          Congenital generalized hypercontractile muscle stiffness syndrome   1174000008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Muscle finding   106030000
      Disorder of muscle   129565002
        Disorder of skeletal muscle   75047002
          Myofibrillar myopathy   699269005
            Congenital generalized hypercontractile muscle stiffness syndrome   1174000008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Congenital generalized hypercontractile muscle stiffness syndrome   1174000008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Congenital generalized hypercontractile muscle stiffness syndrome   1174000008

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