Autosomal dominant adult-onset proximal spinal muscular atrophy   784391002

SNOMED CT code


SNOMED code784391002
nameAutosomal dominant adult-onset proximal spinal muscular atrophy
statusactive
date introduced2019-07-31
fully specified name(s)Autosomal dominant adult-onset proximal spinal muscular atrophy (disorder)
synonyms
  • Autosomal dominant late-onset spinal muscular atrophy Finkel type
  • Autosomal dominant adult-onset proximal spinal muscular atrophy
  • Finkel disease
  • SMAFK - spinal muscular atrophy Finkel type
attributes - group1
OccurrenceAdulthood   41847000
Finding siteNervous system structure   25087005
attributes - group2
Clinical courseProgressive   255314001
parents
  • Autosomal dominant hereditary disorder   11164009
  • Chronic nervous system disorder   128283000
  • Spinal muscular atrophy   5262007
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Autosomal dominant adult-onset proximal spinal muscular atrophy   784391002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic nervous system disorder   128283000
          Autosomal dominant adult-onset proximal spinal muscular atrophy   784391002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Hereditary disorder of nervous system   363235000
            Hereditary motor neuron disease   49793008
              Spinal muscular atrophy   5262007
                Autosomal dominant adult-onset proximal spinal muscular atrophy   784391002

ancestors
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