Early-onset calcifying leukoencephalopathy, skeletal dysplasia   1222661007

SNOMED CT code


SNOMED code1222661007
nameEarly-onset calcifying leukoencephalopathy, skeletal dysplasia
statusactive
date introduced2022-05-31
fully specified name(s)Early-onset calcifying leukoencephalopathy, skeletal dysplasia (disorder)
synonyms
  • Early-onset calcifying leucoencephalopathy, skeletal dysplasia
  • Early-onset calcifying leukoencephalopathy, skeletal dysplasia
attributes - group4
Clinical courseProgressive   255314001
attributes - group3
InterpretsBone density scan   312681000
Has interpretationAbove reference range   281302008
attributes - group1
OccurrenceChildhood   255398004
Finding siteCerebral white matter structure   68523003
Associated morphologyPathologic calcification   18115005
attributes - group2
OccurrenceCongenital   255399007
Associated morphologyDysplasia   25723000
Pathological processPathological developmental process   308490002
Finding siteBone structure   272673000
parents
  • Hereditary degenerative disease of central nervous system   106018006
  • Chronic disease of musculoskeletal system   128237006
  • Cerebral calcification   17944005
  • Leukoencephalopathy   22811006
  • Dysplasia with increased bone density   254120004
  • Cerebral degeneration in childhood   2584003
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Chronic brain syndrome   78689005
  • 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 disease of the central nervous system   80690008
          Hereditary degenerative disease of central nervous system   106018006
            Early-onset calcifying leukoencephalopathy, skeletal dysplasia   1222661007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic disease of musculoskeletal system   128237006
          Early-onset calcifying leukoencephalopathy, skeletal dysplasia   1222661007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Neurological lesion   299735001
      Lesion of brain   301766008
        Cerebral calcification   17944005
          Early-onset calcifying leukoencephalopathy, skeletal dysplasia   1222661007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of head and neck region   118254002
      Head finding   406122000
        Finding of head region   298364001
          Leukoencephalopathy   22811006
            Early-onset calcifying leukoencephalopathy, skeletal dysplasia   1222661007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Bone finding   118953000
        Disorder of bone   76069003
          Dysplasia with increased bone density   254120004
            Early-onset calcifying leukoencephalopathy, skeletal dysplasia   1222661007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disease of the central nervous system   80690008
          Degenerative brain disorder   52522001
            Cerebral degeneration   418143002
              Cerebral degeneration in childhood   2584003
                Early-onset calcifying leukoencephalopathy, skeletal dysplasia   1222661007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Early-onset calcifying leukoencephalopathy, skeletal dysplasia   1222661007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Early-onset calcifying leukoencephalopathy, skeletal dysplasia   1222661007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic nervous system disorder   128283000
          Chronic brain syndrome   78689005
            Early-onset calcifying leukoencephalopathy, skeletal dysplasia   1222661007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Early-onset calcifying leukoencephalopathy, skeletal dysplasia   1222661007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Early-onset calcifying leukoencephalopathy, skeletal dysplasia   1222661007

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