Digital extensor muscle aplasia with polyneuropathy   771261002

SNOMED CT code


SNOMED code771261002
nameDigital extensor muscle aplasia with polyneuropathy
statusactive
date introduced2019-01-31
fully specified name(s)Digital extensor muscle aplasia with polyneuropathy (disorder)
synonyms
  • Digital extensor muscle aplasia with polyneuropathy
  • Polyneuropathy, hand defect syndrome
  • Hamanishi Ueba Tsuji syndrome
  • Congenital aplasia of extensor muscle of finger and thumb associated with generalized polyneuropathy
  • Congenital aplasia of extensor muscle of finger and thumb associated with generalised polyneuropathy
attributes - group1
Pathological processPathological developmental process   308490002
Finding siteStructure of extensor muscle of hand   714454000
Associated morphologyAplasia   45486003
OccurrenceCongenital   255399007
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding sitePeripheral nerve structure   84782009
parents
  • Aplasia of muscle   205532005
  • Myoneural disorder   257277002
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Congenital absence of skeletal muscle   38776003
  • Hereditary motor and sensory neuropathy   398100001
  • Polyneuropathy   42345000
  • Congenital absence of part of upper limb   449682004
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Congenital anomaly of musculoskeletal system   73573004
          Aplasia of muscle   205532005
            Digital extensor muscle aplasia with polyneuropathy   771261002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Muscle finding   106030000
      Disorder of muscle   129565002
        Disorder of skeletal muscle   75047002
          Myoneural disorder   257277002
            Digital extensor muscle aplasia with polyneuropathy   771261002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Digital extensor muscle aplasia with polyneuropathy   771261002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Digital extensor muscle aplasia with polyneuropathy   771261002

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 absence of skeletal muscle   38776003
              Digital extensor muscle aplasia with polyneuropathy   771261002

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 peripheral neuropathy   65017003
              Hereditary motor and sensory neuropathy   398100001
                Digital extensor muscle aplasia with polyneuropathy   771261002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    General finding of soft tissue   248402002
      Disorder of soft tissue   19660004
        Peripheral nerve disease   302226006
          Polyneuropathy   42345000
            Digital extensor muscle aplasia with polyneuropathy   771261002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Finding of upper limb   116307009
        Absence of upper limb   449669007
          Congenital absence of upper limb   360526007
            Congenital absence of part of upper limb   449682004
              Digital extensor muscle aplasia with polyneuropathy   771261002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Digital extensor muscle aplasia with polyneuropathy   771261002

ancestors
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