Conductive deafness, ptosis, skeletal anomalies syndrome   763213001

SNOMED CT code


SNOMED code763213001
nameConductive deafness, ptosis, skeletal anomalies syndrome
statusactive
date introduced2018-07-31
fully specified name(s)Conductive deafness, ptosis, skeletal anomalies syndrome (disorder)
synonyms
  • Jackson Barr syndrome
  • Conductive deafness, ptosis, skeletal anomalies syndrome
attributes - group1
Associated morphologyDysplasia   25723000
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteSkin structure   39937001
attributes - group2
Associated morphologyDysplasia   25723000
OccurrenceCongenital   255399007
Finding siteEctoderm structure   63206006
Pathological processPathological developmental process   308490002
attributes - group3
Finding siteHair structure   386045008
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group4
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteDentition   245543004
Associated morphologyDysplasia   25723000
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disease of mouth   118938008
          Oral lesion   1071000119107
            Conductive deafness, ptosis, skeletal anomalies syndrome   763213001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Disorder of digestive system   53619000
        Digestive system hereditary disorder   363080007
          Hereditary disorder of tooth   1148766007
            Conductive deafness, ptosis, skeletal anomalies syndrome   763213001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of tooth development   371136004
          Malformation of tooth   422775003
            Malformation of teeth   1162865004
              Conductive deafness, ptosis, skeletal anomalies syndrome   763213001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of embryonic structure   609521009
        Congenital ectodermal defect   254154003
          Ectodermal dysplasia   8654005
            Ectodermal dysplasia with hair-tooth defects   239027006
              Conductive deafness, ptosis, skeletal anomalies syndrome   763213001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Conductive deafness, ptosis, skeletal anomalies syndrome   763213001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Conductive deafness, ptosis, skeletal anomalies syndrome   763213001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Conductive deafness, ptosis, skeletal anomalies syndrome   763213001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Conductive deafness, ptosis, skeletal anomalies syndrome   763213001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    General finding of soft tissue   248402002
      Disorder of soft tissue   19660004
        Soft tissue lesion   239953001
          Skin lesion   95324001
            Conductive deafness, ptosis, skeletal anomalies syndrome   763213001

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