Chondrodysplasia punctata, X-linked dominant type   398958000

SNOMED CT code


SNOMED code398958000
nameChondrodysplasia punctata, X-linked dominant type
statusactive
date introduced2003-07-31
fully specified name(s)Chondrodysplasia punctata, X-linked dominant type (disorder)
synonyms
  • Chondrodysplasia punctata, X-linked dominant type
  • Conradi Hünermann Happle syndrome
  • X-linked chondrodysplasia punctata type 2
  • Chondrodystrophia calcificans congenita
  • Happle syndrome
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
Finding siteBone structure   272673000
attributes - group2
Finding siteSkin structure   39937001
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
parents
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
              X-linked dominant hereditary disease   1162984000
                Chondrodysplasia punctata, X-linked dominant type   398958000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of lipoprotein AND/OR lipid metabolism   48286001
          Disorder of lipid storage and metabolism   238017009
            Disorder of cholesterol synthesis   238036004
              Chondrodysplasia punctata, X-linked dominant type   398958000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Congenital anomaly of integument   38164009
          Congenital anomaly of skin   199879009
            Genodermatosis   239001006
              Chondrodysplasia punctata, X-linked dominant type   398958000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Chondrodysplasia punctata   278715001
              Chondrodysplasia punctata, X-linked dominant type   398958000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Chondrodysplasia punctata, X-linked dominant type   398958000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Chondrodysplasia punctata, X-linked dominant type   398958000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Chondrodysplasia punctata, X-linked dominant type   398958000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Metabolic bone disease   50279003
          Chondrodysplasia punctata, X-linked dominant type   398958000

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