Axial spondylometaphyseal dysplasia   771301002

SNOMED CT code


SNOMED code771301002
nameAxial spondylometaphyseal dysplasia
statusactive
date introduced2019-01-31
fully specified name(s)Axial spondylometaphyseal dysplasia (disorder)
synonymsAxial spondylometaphyseal dysplasia
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
Finding siteBone structure of extremity   48566001
OccurrenceCongenital   255399007
attributes - group2
InterpretsLimb length   164835000
Has interpretationBelow reference range   281300000
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Rhizomelic dysplasia   1263463009
              Axial spondylometaphyseal dysplasia   771301002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Spondylometaphyseal dysplasia   784006008
            Axial spondylometaphyseal dysplasia   771301002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Axial spondylometaphyseal dysplasia   771301002

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