Hereditary cerebellar atrophy   431641000124107

SNOMED CT code


SNOMED code431641000124107
nameHereditary cerebellar atrophy
statusactive
date introduced2012-09-01
fully specified name(s)Hereditary cerebellar atrophy (disorder)
synonymsHereditary cerebellar atrophy
attributes - group1
Finding siteCerebellar structure   113305005
Associated morphologyAtrophy   13331008
parentsHereditary cerebellar degeneration   37650008
children
  • Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency   1237625002
  • Combined oxidative phosphorylation defect type 29   1172843003
  • Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome   782737003
  • Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome   1172696009
  • Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum   724283004
  • Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly   770725000
  • Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome   1237514002
  • Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome   1217381009
  • Progressive cerebello-cerebral atrophy   1208481000
  • Spinocerebellar ataxia type 45   1279840000
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disease of the central nervous system   80690008
          Hereditary degenerative disease of central nervous system   106018006
            Hereditary cerebellar degeneration   37650008
              Hereditary cerebellar atrophy   431641000124107

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