Robinow syndrome   76520005

SNOMED CT code


SNOMED code76520005
nameRobinow syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Robinow syndrome (disorder)
synonyms
  • Robinow syndrome
  • Fetal face syndrome
  • Foetal face syndrome
  • Acral dysostosis with facial and genital abnormalities
  • Robinow Silverman Smith syndrome
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteFace structure   89545001
OccurrenceCongenital   255399007
attributes - group4
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
Finding siteBone structure of extremity   48566001
OccurrenceCongenital   255399007
attributes - group3
Pathological processPathological developmental process   308490002
Finding siteExternal genitalia structure   77142006
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
attributes - group6
InterpretsLimb length   164835000
Has interpretationBelow reference range   281300000
parents
  • Autosomal hereditary disorder   1899006
  • Congenital malformation of genital organs   204821009
  • Mesomelic dysplasia   205473008
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Reproductive system hereditary disorder   363290007
  • Disorder of pelvic region of trunk   609619005
children
  • Autosomal dominant Robinow syndrome   890233009
  • Autosomal recessive Robinow syndrome   890237005
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
            Robinow syndrome   76520005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of trunk structure   302292003
      Finding of abdominopelvic segment of trunk   822987005
        Urogenital finding   118238000
          Genital finding   300479008
            Congenital malformation of genital organs   204821009
              Robinow syndrome   76520005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Mesomelic dysplasia   205473008
              Robinow syndrome   76520005

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
            Robinow syndrome   76520005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Robinow syndrome   76520005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Robinow syndrome   76520005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Hereditary disorder by system   363137000
          Reproductive system hereditary disorder   363290007
            Robinow syndrome   76520005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of trunk structure   302292003
      Finding of abdominopelvic segment of trunk   822987005
        Finding of pelvic region of trunk   609625009
          Disorder of pelvic region of trunk   609619005
            Robinow syndrome   76520005

ancestors
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