Congenital muscular dystrophy with cerebellar involvement   783176002

SNOMED CT code


SNOMED code783176002
nameCongenital muscular dystrophy with cerebellar involvement
statusactive
date introduced2019-07-31
fully specified name(s)Congenital muscular dystrophy with cerebellar involvement (disorder)
synonymsCongenital muscular dystrophy with cerebellar involvement
attributes - group2
Finding siteCerebellar structure   113305005
Associated morphologyHypoplasia   55199003
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyDystrophy   4720007
OccurrenceCongenital   255399007
Finding siteSkeletal muscle structure   127954009
attributes - group3
Clinical courseProgressive   255314001
parents
  • Congenital hereditary muscular dystrophy   111501005
  • Inherited metabolic disorder of nervous system   128190004
  • Chronic metabolic disorder   128289001
  • Congenital cerebellar hypoplasia   16026008
  • Combined malformation of central nervous system and skeletal muscle   277949001
  • Chronic brain syndrome   78689005
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Muscle finding   106030000
      Disorder of muscle   129565002
        Disorder of skeletal muscle   75047002
          Congenital anomaly of skeletal muscle   89886004
            Congenital hereditary muscular dystrophy   111501005
              Congenital muscular dystrophy with cerebellar involvement   783176002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Inherited metabolic disorder of nervous system   128190004
            Congenital muscular dystrophy with cerebellar involvement   783176002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic metabolic disorder   128289001
          Congenital muscular dystrophy with cerebellar involvement   783176002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Finding of brain   299718000
        Disorder of brain   81308009
          Cerebellar disorder   223176004
            Dysgenesis of the cerebellum   253171007
              Congenital cerebellar hypoplasia   16026008
                Congenital muscular dystrophy with cerebellar involvement   783176002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Disorder of the central nervous system   23853001
        Congenital anomaly of central nervous system   128124001
          Combined malformation of central nervous system and skeletal muscle   277949001
            Congenital muscular dystrophy with cerebellar involvement   783176002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic nervous system disorder   128283000
          Chronic brain syndrome   78689005
            Congenital muscular dystrophy with cerebellar involvement   783176002

ancestors
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