PHAVER syndrome   723453002

SNOMED CT code


SNOMED code723453002
namePHAVER syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder)
synonyms
  • Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome
  • PHAVER syndrome
  • PHAVER (pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect) syndrome
  • Powell Chandra Saal syndrome
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteLimb structure   66019005
parents
  • Developmental hereditary disorder   363070008
  • Multiple malformation syndrome with limb defect as major feature   41443008
  • Congenital anomaly of limb   60475009
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          PHAVER syndrome   723453002

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
                PHAVER syndrome   723453002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Congenital anomaly of limb   60475009
          PHAVER syndrome   723453002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              PHAVER syndrome   723453002

ancestors
sorted most to least specific
cpt crosswalks

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