Karsch Neugebauer syndrome   722032005

SNOMED CT code


SNOMED code722032005
nameKarsch Neugebauer syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Karsch Neugebauer syndrome (disorder)
synonymsKarsch Neugebauer syndrome
attributes - group3
Pathological processPathological developmental process   308490002
Finding siteVisual structure   49549006
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
attributes - group4
Finding siteBone structure   272673000
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyDysplasia   25723000
attributes - group5
Pathological processPathological developmental process   308490002
Associated morphologyAbsence   418560003
Finding siteEntire lesser toe   182308006
OccurrenceCongenital   255399007
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyDevelopmental failure of fusion   371520008
OccurrenceCongenital   255399007
Finding siteFoot structure   56459004
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyDevelopmental failure of fusion   371520008
OccurrenceCongenital   255399007
Finding siteHand structure   85562004
parents
  • Dysostosis   109420003
  • Autosomal dominant hereditary disorder   11164009
  • Congenital anomaly of visual system   127329003
  • Split foot   205358006
  • Congenital anomaly of hand   34111000
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Hereditary disorder of the visual system   363343008
  • Multiple malformation syndrome with limb defect as major feature   41443008
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Dysostosis   109420003
              Karsch Neugebauer syndrome   722032005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Karsch Neugebauer syndrome   722032005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Congenital anomaly of visual system   127329003
          Karsch Neugebauer syndrome   722032005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Finding of lower limb   116312005
        Absence of lower limb   723722000
          Congenital absence of foot   371197005
            Congenital absence of toe   66345008
              Split foot   205358006
                Karsch Neugebauer syndrome   722032005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Finding of upper limb   116307009
        Finding of hand region   116311003
          Disorder of hand   118933004
            Congenital anomaly of hand   34111000
              Karsch Neugebauer syndrome   722032005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Karsch Neugebauer syndrome   722032005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Karsch Neugebauer syndrome   722032005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Karsch Neugebauer syndrome   722032005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Multiple malformation syndrome with limb defect as major feature   41443008
                Karsch Neugebauer syndrome   722032005

ancestors
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