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

SNOMED CT code


SNOMED code277949001
nameCombined malformation of central nervous system and skeletal muscle
statusactive
date introduced2002-01-31
fully specified name(s)Combined malformation of central nervous system and skeletal muscle (disorder)
synonymsCombined malformation of central nervous system and skeletal muscle
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
Finding siteSkeletal muscle structure   127954009
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteCentral nervous system structure   21483005
parents
  • Congenital anomaly of central nervous system   128124001
  • Congenital anomaly of skeletal muscle   89886004
children
  • Congenital muscular dystrophy with cerebellar involvement   783176002
  • Lethal hydranencephaly, diaphragmatic hernia syndrome   1172705006
  • Muscle eye brain disease   277950001
  • Muscle eye brain disease with bilateral multicystic leukodystrophy   785298001
  • Muscle-eye-brain disease, congenital muscular dystrophy   111505001
  • Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome   782945001
  • Walker-Warburg congenital muscular dystrophy   111504002
hierarchies
a selection of possible paths
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

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
            Combined malformation of central nervous system and skeletal muscle   277949001

ancestors
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