Muscle-eye-brain disease, congenital muscular dystrophy   111505001

SNOMED CT code


SNOMED code111505001
nameMuscle-eye-brain disease, congenital muscular dystrophy
statusactive
date introduced2002-01-31
fully specified name(s)Muscle-eye-brain disease, congenital muscular dystrophy (disorder)
synonyms
  • Cerebro-oculo-dysgenesis-muscular dystrophy syndrome
  • COD-MD - Cerebro-oculo-dysgenesis-muscular dystrophy syndrome
  • Muscle-eye-brain disease, congenital muscular dystrophy
attributes - group3
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteCentral nervous system structure   21483005
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyDystrophy   4720007
Finding siteSkeletal muscle structure   127954009
attributes - group2
Clinical courseProgressive   255314001
parents
  • Congenital hereditary muscular dystrophy   111501005
  • Chronic nervous system disorder   128283000
  • Combined malformation of central nervous system and skeletal muscle   277949001
  • Hereditary disorder of nervous system   363235000
  • Autosomal recessive hereditary disorder   85995004
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
              Muscle-eye-brain disease, congenital muscular dystrophy   111505001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic nervous system disorder   128283000
          Muscle-eye-brain disease, congenital muscular dystrophy   111505001

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
            Muscle-eye-brain disease, congenital muscular dystrophy   111505001

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
            Muscle-eye-brain disease, congenital muscular dystrophy   111505001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Muscle-eye-brain disease, congenital muscular dystrophy   111505001

ancestors
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