Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome   733118006

SNOMED CT code


SNOMED code733118006
nameAphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome (disorder)
synonyms
  • Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
  • Johnson Munson syndrome
attributes - group1
OccurrenceCongenital   255399007
Finding sitePhalanx structure   28641004
Pathological processPathological developmental process   308490002
Associated morphologyAbsence   418560003
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyAplasia   45486003
OccurrenceCongenital   255399007
Finding siteBone structure of spine   51282000
parents
  • Adactyly   275348004
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Multiple malformation syndrome with limb defect as major feature   41443008
  • Congenital hemivertebra   68359008
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
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
            Adactyly   275348004
              Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome   733118006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome   733118006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome   733118006

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
                Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome   733118006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Vertebral column finding   119414006
        Disorder of vertebral column   699699005
          Congenital hemivertebra   68359008
            Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome   733118006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome   733118006

ancestors
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