Reinhardt Pfeiffer mesomelic dysplasia   715472000

SNOMED CT code


SNOMED code715472000
nameReinhardt Pfeiffer mesomelic dysplasia
statusactive
date introduced2016-07-31
fully specified name(s)Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)
synonyms
  • Mesomelic dysplasia of hypoplastic ulna and fibula type
  • Mesomelic dwarfism Reinhardt-Pfeiffer type
  • Reinhardt Pfeiffer syndrome
  • Reinhardt Pfeiffer mesomelic dysplasia
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
Finding siteBone structure of extremity   48566001
attributes - group2
InterpretsLimb length   164835000
Has interpretationBelow reference range   281300000
attributes - group4
InterpretsBody height measure   50373000
Has interpretationBelow reference range   281300000
attributes - group3
OccurrenceCongenital   255399007
Finding siteBone structure of fibula   87342007
Pathological processPathological developmental process   308490002
Associated morphologyHypoplasia   55199003
attributes - group5
OccurrenceCongenital   255399007
Finding siteBone structure of ulna   23416004
Associated morphologyHypoplasia   55199003
Pathological processPathological developmental process   308490002
parents
  • Autosomal dominant hereditary disorder   11164009
  • Mesomelic dysplasia   205473008
  • Short stature disorder   237836003
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Congenital hypoplasia of fibula   93256009
  • Congenital hypoplasia of ulna   93300007
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
              Reinhardt Pfeiffer mesomelic dysplasia   715472000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Mesomelic dysplasia   205473008
              Reinhardt Pfeiffer mesomelic dysplasia   715472000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of general physiological development   271616002
      Disorder of stature   237834000
        Short stature disorder   237836003
          Reinhardt Pfeiffer mesomelic dysplasia   715472000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Reinhardt Pfeiffer mesomelic dysplasia   715472000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Reinhardt Pfeiffer mesomelic dysplasia   715472000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Finding of lower limb   116312005
        Finding of bone of lower limb   879910002
          Congenital anomaly of fibula   123562008
            Congenital hypoplasia of fibula   93256009
              Reinhardt Pfeiffer mesomelic dysplasia   715472000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Finding of upper limb   116307009
        Finding of bone of upper limb   298756009
          Congenital anomaly of ulna   123560000
            Congenital hypoplasia of ulna   93300007
              Reinhardt Pfeiffer mesomelic dysplasia   715472000

ancestors
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