Acrofacial dysostosis Rodriguez type   720430002

SNOMED CT code


SNOMED code720430002
nameAcrofacial dysostosis Rodriguez type
statusactive
date introduced2017-01-31
fully specified name(s)Acrofacial dysostosis Rodriguez type (disorder)
synonymsAcrofacial dysostosis Rodriguez type
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteEntire limb   243996003
Associated morphologyAbnormal shortening   45056002
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteBone structure of face   91397008
Associated morphologyDysplasia   25723000
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
OccurrenceCongenital   255399007
Finding siteBone structure of extremity   48566001
parents
  • Dysostosis   109420003
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Congenital anomaly of face bones   32003007
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Longitudinal deficiency of limb   67341007
  • Lesion of face   767811005
  • Autosomal recessive hereditary disorder   85995004
  • Congenital dysplasia of limb   88631000119105
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Dysostosis   109420003
              Acrofacial dysostosis Rodriguez type   720430002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Congenital anomaly of limb   60475009
          Multiple malformation syndrome with facial-limb defects as major feature   23359005
            Acrofacial dysostosis Rodriguez type   720430002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Bone finding   118953000
        Facial bone finding   248398006
          Disorder of facial bone   128225009
            Congenital anomaly of face bones   32003007
              Acrofacial dysostosis Rodriguez type   720430002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Acrofacial dysostosis Rodriguez type   720430002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Acrofacial dysostosis Rodriguez type   720430002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Deformity of limb   445144002
        Longitudinal deficiency of limb   67341007
          Acrofacial dysostosis Rodriguez type   720430002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of face   118930001
          Lesion of face   767811005
            Acrofacial dysostosis Rodriguez type   720430002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Acrofacial dysostosis Rodriguez type   720430002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Congenital anomaly of limb   60475009
          Congenital dysplasia of limb   88631000119105
            Acrofacial dysostosis Rodriguez type   720430002

ancestors
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