Autosomal recessive distal osteolysis syndrome   715487005

SNOMED CT code


SNOMED code715487005
nameAutosomal recessive distal osteolysis syndrome
statusactive
date introduced2016-07-31
fully specified name(s)Autosomal recessive distal osteolysis syndrome (disorder)
synonyms
  • Autosomal recessive distal osteolysis syndrome
  • Distal osteolysis, short stature and intellectual disability
  • Petit Fryns syndrome
attributes - group2
Finding siteFace structure   89545001
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteLimb structure   66019005
attributes - group1
Associated morphologyOsteolysis   30425001
Finding siteBone structure   272673000
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
parents
  • Osteolysis   203522001
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Congenital anomaly of skeletal bone   8447006
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disorder of musculoskeletal system   363059001
          Degenerative disorder of bone   363054006
            Osteolysis   203522001
              Autosomal recessive distal osteolysis syndrome   715487005

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
            Autosomal recessive distal osteolysis syndrome   715487005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Autosomal recessive distal osteolysis syndrome   715487005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Autosomal recessive distal osteolysis syndrome   715487005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Autosomal recessive distal osteolysis syndrome   715487005

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 distal osteolysis syndrome   715487005

ancestors
sorted most to least specific
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