Congenital cataracts, facial dysmorphism and neuropathy   702433001

SNOMED CT code


SNOMED code702433001
nameCongenital cataracts, facial dysmorphism and neuropathy
statusactive
date introduced2014-07-31
fully specified name(s)Congenital cataracts, facial dysmorphism and neuropathy (disorder)
synonyms
  • CCFDN - congenital cataracts, facial dysmorphism and neuropathy
  • Congenital cataracts, facial dysmorphism and neuropathy
attributes - group1
Finding siteEye structure   81745001
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding sitePeripheral nervous system structure   3058005
parents
  • Congenital anomaly of eye   19416009
  • Congenital anomaly of the peripheral nervous system   22133005
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of nervous system   363235000
  • Hereditary disorder of the visual system   363343008
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Congenital anomaly of visual system   127329003
          Congenital anomaly of eye   19416009
            Congenital cataracts, facial dysmorphism and neuropathy   702433001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Disorder of the peripheral nervous system   42658009
            Congenital anomaly of the peripheral nervous system   22133005
              Congenital cataracts, facial dysmorphism and neuropathy   702433001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Congenital cataracts, facial dysmorphism and neuropathy   702433001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Hereditary disorder of nervous system   363235000
            Congenital cataracts, facial dysmorphism and neuropathy   702433001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Congenital cataracts, facial dysmorphism and neuropathy   702433001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Congenital cataracts, facial dysmorphism and neuropathy   702433001

ancestors
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