Neurofaciodigitorenal syndrome   725908007

SNOMED CT code


SNOMED code725908007
nameNeurofaciodigitorenal syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Neurofaciodigitorenal syndrome (disorder)
synonyms
  • Neurofaciodigitorenal syndrome
  • Freire Maia Pinheiro Opitz syndrome
  • NFDR (neurofaciodigitorenal) syndrome
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteFace structure   89545001
attributes - group2
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteDigit structure   82680008
attributes - group3
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteKidney structure   64033007
attributes - group4
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group5
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Developmental hereditary disorder   363070008
  • Hereditary nephropathy   367591000119105
  • Congenital anomaly of digit   403855001
  • Congenital anomaly of the kidney   44513007
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Neurofaciodigitorenal syndrome   725908007

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
            Neurofaciodigitorenal syndrome   725908007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Neurofaciodigitorenal syndrome   725908007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Viscus structure finding   406123005
      Abdominal organ finding   249561001
        Kidney finding   249578005
          Kidney disease   90708001
            Hereditary nephropathy   367591000119105
              Neurofaciodigitorenal syndrome   725908007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Disorder of digit   128597007
          Congenital anomaly of digit   403855001
            Neurofaciodigitorenal syndrome   725908007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Viscus structure finding   406123005
      Abdominal organ finding   249561001
        Kidney finding   249578005
          Kidney disease   90708001
            Congenital anomaly of the kidney   44513007
              Neurofaciodigitorenal syndrome   725908007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Neurofaciodigitorenal syndrome   725908007

ancestors
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