Osteoporosis and oculocutaneous hypopigmentation syndrome   722113001

SNOMED CT code


SNOMED code722113001
nameOsteoporosis and oculocutaneous hypopigmentation syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)
synonyms
  • Osteoporosis and oculocutaneous hypopigmentation syndrome
  • Hernandez Fragoso syndrome
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteEye structure   81745001
Associated morphologyHypopigmentation   89031001
attributes - group2
Finding siteSkin structure   39937001
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyHypopigmentation   89031001
attributes - group3
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteBone structure   272673000
Associated morphologyDysplasia   25723000
attributes - group4
Has interpretationBelow reference range   281300000
InterpretsBone density scan   312681000
parents
  • Dysplasia with decreased bone density   254104009
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of the integument   363185004
  • Hereditary disorder of musculoskeletal system   363212003
  • Hereditary disorder of the visual system   363343008
  • Congenital oculocutaneous hypopigmentation   61649007
  • Genetic disorder of skin pigmentation   724839001
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Procedure related finding   127325009
      Bone density finding   385342005
        Bone density below reference range   449781000
          Dysplasia with decreased bone density   254104009
            Osteoporosis and oculocutaneous hypopigmentation syndrome   722113001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Osteoporosis and oculocutaneous hypopigmentation syndrome   722113001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Osteoporosis and oculocutaneous hypopigmentation syndrome   722113001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Osteoporosis and oculocutaneous hypopigmentation syndrome   722113001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Osteoporosis and oculocutaneous hypopigmentation syndrome   722113001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Congenital anomaly of visual system   127329003
          Congenital anomaly of eye   19416009
            Congenital oculocutaneous hypopigmentation   61649007
              Osteoporosis and oculocutaneous hypopigmentation syndrome   722113001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Genetic disorder of skin pigmentation   724839001
          Osteoporosis and oculocutaneous hypopigmentation syndrome   722113001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Osteoporosis and oculocutaneous hypopigmentation syndrome   722113001

ancestors
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