Melnick-Fraser syndrome   290006

SNOMED CT code


SNOMED code290006
nameMelnick-Fraser syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Melnick-Fraser syndrome (disorder)
synonyms
  • Melnick-Fraser syndrome
  • Branchio-oto-renal syndrome
  • BOR syndrome
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteKidney structure   64033007
attributes - group2
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
attributes - group3
Finding siteAuditory structure   91159003
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
attributes - group4
InterpretsHearing   47078008
attributes - group5
Finding siteBranchial arch structure   68959004
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
parents
  • Autosomal dominant hereditary disorder   11164009
  • Hearing loss   15188001
  • Auditory system hereditary disorder   362991006
  • Developmental hereditary disorder   363070008
  • Hereditary nephropathy   367591000119105
  • Developmental malformation of branchial arch   402810002
  • Congenital anomaly of the kidney   44513007
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Congenital hearing disorder   95827002
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
              Melnick-Fraser syndrome   290006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Hearing finding   118230007
        Hearing disorder   128540005
          Hearing loss   15188001
            Melnick-Fraser syndrome   290006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Melnick-Fraser syndrome   290006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Melnick-Fraser syndrome   290006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Viscus structure finding   406123005
      Abdominal organ finding   249561001
        Kidney finding   249578005
          Kidney disease   90708001
            Hereditary nephropathy   367591000119105
              Melnick-Fraser syndrome   290006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of embryonic structure   609521009
        Developmental malformation of branchial arch   402810002
          Melnick-Fraser syndrome   290006

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
              Melnick-Fraser syndrome   290006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of face   118930001
          Congenital anomaly of face   398302004
            Multiple malformation syndrome with facial defects as major feature   65094009
              Melnick-Fraser syndrome   290006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital hearing disorder   95827002
          Melnick-Fraser syndrome   290006

ancestors
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