Ehlers-Danlos syndrome progeroid type   720861000

SNOMED CT code


SNOMED code720861000
nameEhlers-Danlos syndrome progeroid type
statusactive
date introduced2017-01-31
fully specified name(s)Ehlers-Danlos syndrome progeroid type (disorder)
synonyms
  • Ehlers-Danlos syndrome progeroid type
  • Defective biosynthesis of proteodermatan sulfate
  • Defective biosynthesis of proteodermatan sulphate
  • Galactosyltransferase I deficiency
  • Xylosylprotein 4-beta-galactosyltransferase deficiency
  • B4GALT7-related spondylodysplastic EDS (Ehlers-Danlos syndrome)
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteSkin structure   39937001
Associated morphologyDysplasia   25723000
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteBone structure   272673000
Associated morphologyDysplasia   25723000
attributes - group3
Finding siteConnective tissue structure   21793004
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
attributes - group4
Has interpretationAbove reference range   281302008
InterpretsBone density scan   312681000
parents
  • Spondylodysplastic Ehlers-Danlos syndrome   1251488008
  • Dysplasia with increased bone density   254120004
  • Premature aging syndrome   399959003
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of connective tissue   105969002
        Musculoskeletal and connective tissue disorder   312225001
          Ehlers-Danlos syndrome   398114001
            Spondylodysplastic Ehlers-Danlos syndrome   1251488008
              Ehlers-Danlos syndrome progeroid type   720861000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Bone finding   118953000
        Disorder of bone   76069003
          Dysplasia with increased bone density   254120004
            Ehlers-Danlos syndrome progeroid type   720861000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Premature aging syndrome   399959003
            Ehlers-Danlos syndrome progeroid type   720861000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Ehlers-Danlos syndrome progeroid type   720861000

ancestors
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cpt crosswalks

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