Autosomal recessive popliteal pterygium syndrome   722376008

SNOMED CT code


SNOMED code722376008
nameAutosomal recessive popliteal pterygium syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Autosomal recessive popliteal pterygium syndrome (disorder)
synonyms
  • Autosomal recessive popliteal pterygium syndrome
  • Bartsocas Papas syndrome
  • Lethal popliteal pterygium syndrome
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteSkin structure   39937001
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyCongenital webbing   76640006
Finding sitePopliteal region structure   6902008
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteEctoderm structure   63206006
Associated morphologyDysplasia   25723000
parents
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of the integument   363185004
  • Popliteal pterygium syndrome   66783006
  • Autosomal recessive hereditary disorder   85995004
  • Ectodermal dysplasia   8654005
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Autosomal recessive popliteal pterygium syndrome   722376008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Autosomal recessive popliteal pterygium syndrome   722376008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of joint region   785875003
        Disorder of knee   128136007
          Popliteal pterygium syndrome   66783006
            Autosomal recessive popliteal pterygium syndrome   722376008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Autosomal recessive popliteal pterygium syndrome   722376008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of embryonic structure   609521009
        Congenital ectodermal defect   254154003
          Ectodermal dysplasia   8654005
            Autosomal recessive popliteal pterygium syndrome   722376008

ancestors
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