Diaphyseal dysplasia   34643004

SNOMED CT code


SNOMED code34643004
nameDiaphyseal dysplasia
statusactive
date introduced2002-01-31
fully specified name(s)Diaphyseal dysplasia (disorder)
synonyms
  • Progressive diaphyseal dysplasia
  • Engelmann syndrome
  • Engelman's disease
  • Camurati-Engelmann syndrome
  • Diaphyseal dysplasia
  • Engelmann's disease
  • Diaphyseal sclerosis
  • Osteopathia hyperostotica multiplex infantis
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteDiaphysis structure   53394001
Associated morphologyDysplasia   25723000
attributes - group3
Clinical courseProgressive   255314001
attributes - group2
InterpretsBone density scan   312681000
Has interpretationAbove reference range   281302008
parents
  • Autosomal dominant hereditary disorder   11164009
  • Chronic disease of musculoskeletal system   128237006
  • Dysplasia with increased bone density   254120004
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Congenital anomaly of skeletal bone   8447006
childrenProgressive diaphyseal dysplasia   318761000119105  removed: 2021-09-30
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Diaphyseal dysplasia   34643004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic disease of musculoskeletal system   128237006
          Diaphyseal dysplasia   34643004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Bone finding   118953000
        Disorder of bone   76069003
          Dysplasia with increased bone density   254120004
            Diaphyseal dysplasia   34643004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Diaphyseal dysplasia   34643004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Diaphyseal dysplasia   34643004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Diaphyseal dysplasia   34643004

ancestors
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