Craniolenticulosutural dysplasia   725100001

SNOMED CT code


SNOMED code725100001
nameCraniolenticulosutural dysplasia
statusactive
date introduced2017-07-31
fully specified name(s)Craniolenticulosutural dysplasia (disorder)
synonyms
  • Craniolenticulosutural dysplasia
  • Boyadjiev Jabs syndrome
attributes - group3
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
Finding siteSphenoid bone structure   73117003
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteBone structure   272673000
Associated morphologyDysplasia   25723000
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteEntire fontanel of skull   272681004
Associated morphologyEnlargement   442021009
attributes - group4
InterpretsHeight / growth measure   271603002
parents
  • Skeletal dysplasia   105986008
  • Hypertelorism   22006008
  • Short stature disorder   237836003
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Multiple system malformation syndrome   82354003
  • Autosomal recessive hereditary disorder   85995004
  • Congenital enlargement of fontanel   93070004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Disorder of skeletal system   88230002
          Skeletal dysplasia   105986008
            Craniolenticulosutural dysplasia   725100001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of skull   118945008
          Congenital anomaly of skull   51655004
            Hypertelorism   22006008
              Craniolenticulosutural dysplasia   725100001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of general physiological development   271616002
      Disorder of stature   237834000
        Short stature disorder   237836003
          Craniolenticulosutural dysplasia   725100001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Craniolenticulosutural dysplasia   725100001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Craniolenticulosutural dysplasia   725100001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Craniolenticulosutural dysplasia   725100001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Craniolenticulosutural dysplasia   725100001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Bone finding   118953000
        Skull finding   248369007
          Fontanelle finding   248381006
            Congenital enlargement of fontanel   93070004
              Craniolenticulosutural dysplasia   725100001

ancestors
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