Familial x-linked hypophosphatemic vitamin D refractory rickets   82236004

SNOMED CT code


SNOMED code82236004
nameFamilial x-linked hypophosphatemic vitamin D refractory rickets
statusactive
date introduced2002-01-31
fully specified name(s)Familial x-linked hypophosphatemic vitamin D refractory rickets (disorder)
synonyms
  • Familial x-linked hypophosphatemic vitamin D refractory rickets
  • Familial hypophosphatemia
  • Familial hypophosphatemic rickets
  • Familial hypophosphatemic osteomalacia
  • Vitamin D-resistant rickets
  • Vitamin D-resistant osteomalacia
  • Hereditary hypophosphatemia
  • X-linked vitamin D-resistant rickets
  • Familial vitamin D-resistant rickets
  • Familial hypophosphatemic bone disease
  • HPDR I - Hypophosphatemic vitamin D-resistant rickets
  • X-linked hypophosphatemic osteomalacia
  • X-linked hypophosphatemic rickets
  • Familial hypophosphataemic osteomalacia
  • Hereditary hypophosphataemia
  • X-linked hypophosphataemic osteomalacia
  • X-linked hypophosphataemic rickets
  • HPDR I - Hypophosphataemic vitamin D-resistant rickets
  • Familial hypophosphataemic bone disease
  • Familial hypophosphataemia
  • Familial hypophosphataemic rickets
  • Familial x-linked hypophosphataemic vitamin D refractory rickets
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteOsteoid tissue   39365008
Associated morphologyDysplasia   25723000
attributes - group3
Pathological processPathological developmental process   308490002
Finding siteBone structure   272673000
Associated morphologyImpaired mineralization   128416000
OccurrenceCongenital   255399007
attributes - group5
Finding siteStructure of epiphyseal plate   711190000
attributes - group4
InterpretsPhysiologic mineralization of bone   128417009
Has interpretationDeficient   260372006
attributes - group2
Due toSpecific renal tubule transport defect   236470002
parents
childrenHypophosphatemic rickets with nephrotic-glycosuric dwarfism   237888005
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            X-linked hereditary disease   128430005
              Familial x-linked hypophosphatemic vitamin D refractory rickets   82236004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Dysplasia with defective mineralization   254117007
              Familial x-linked hypophosphatemic vitamin D refractory rickets   82236004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Joint finding   118952005
        Arthropathy   399269003
          Arthropathy associated with another disorder   35524003
            Familial x-linked hypophosphatemic vitamin D refractory rickets   82236004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Familial x-linked hypophosphatemic vitamin D refractory rickets   82236004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Familial x-linked hypophosphatemic vitamin D refractory rickets   82236004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Rickets   41345002
        Familial x-linked hypophosphatemic vitamin D refractory rickets   82236004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of mineral metabolism   45744005
          Disorder of phosphate, calcium and vitamin D metabolism   237879001
            Disorder of phosphorus metabolism   87049008
              Hypophosphatemia   4996001
                Familial x-linked hypophosphatemic vitamin D refractory rickets   82236004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Bone finding   118953000
        Disorder of bone   76069003
          Lesion of bone   879976004
            Familial x-linked hypophosphatemic vitamin D refractory rickets   82236004

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