Capra DeMarco syndrome   720815000

SNOMED CT code


SNOMED code720815000
nameCapra DeMarco syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Capra DeMarco syndrome (disorder)
synonyms
  • Capra DeMarco syndrome
  • Familial scaphocephaly with radioulnar synostosis syndrome
  • Berant syndrome
  • Craniosynostosis, hydrocephalus, Arnold Chiari I malformation, radioulnar synostosis
attributes - group3
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteCerebellar structure   113305005
Associated morphologyHernia   414403008
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteBrain cerebrospinal fluid pathway   280371009
Associated morphologyDilatation   25322007
attributes - group4
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyCongenital premature fusion   67798003
Finding siteStructure of sagittal suture of skull   62169003
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyCongenital abnormal fusion   37764001
Finding siteBone structure of ulna   23416004
attributes - group5
Associated morphologyCongenital abnormal fusion   37764001
Finding siteBone structure of radius   62413002
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
parents
  • Congenital radioulnar synostosis   1268409009
  • Congenital anomaly of bone and joint   237513002
  • Chiari malformation type I   253185002
  • Multiple malformation syndrome with limb defect as major feature   41443008
  • Congenital hydrocephalus   47032000
  • Craniosynostosis syndrome   57219006
  • Genetic disease   782964007
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Finding of upper limb   116307009
        Finding of bone of upper limb   298756009
          Failure of differentiation of bones of forearm   253917003
            Congenital radioulnar synostosis   1268409009
              Capra DeMarco syndrome   720815000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Congenital anomaly of bone and joint   237513002
              Capra DeMarco syndrome   720815000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Finding of brain   299718000
        Disorder of brain   81308009
          Cerebellar disorder   223176004
            Dysgenesis of the cerebellum   253171007
              Chiari malformation   253184003
                Chiari malformation type I   253185002
                  Capra DeMarco syndrome   720815000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Multiple malformation syndrome with limb defect as major feature   41443008
                Capra DeMarco syndrome   720815000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Finding of brain   299718000
        Disorder of brain   81308009
          Hydrocephalus   230745008
            Congenital hydrocephalus   47032000
              Capra DeMarco syndrome   720815000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Joint finding   118952005
        Cranial suture finding   248387005
          Imperfect fusion of skull   23939000
            Craniosynostosis syndrome   57219006
              Capra DeMarco syndrome   720815000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Capra DeMarco syndrome   720815000

ancestors
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