Emery Nelson syndrome   773768000

SNOMED CT code


SNOMED code773768000
nameEmery Nelson syndrome
statusactive
date introduced2019-01-31
fully specified name(s)Emery Nelson syndrome (disorder)
synonyms
  • Emery Nelson syndrome
  • Hand and foot deformity, flat facies syndrome
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
Finding siteLimb structure   66019005
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteFace structure   89545001
Associated morphologyMorphologically abnormal structure   49755003
attributes - group3
InterpretsHeight / growth measure   271603002
parents
  • Autosomal dominant hereditary disorder   11164009
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Short stature disorder   237836003
  • Developmental hereditary disorder   363070008
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Emery Nelson syndrome   773768000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Congenital anomaly of limb   60475009
          Multiple malformation syndrome with facial-limb defects as major feature   23359005
            Emery Nelson syndrome   773768000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of general physiological development   271616002
      Disorder of stature   237834000
        Short stature disorder   237836003
          Emery Nelson syndrome   773768000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Emery Nelson syndrome   773768000

ancestors
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