Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome   724145007

SNOMED CT code


SNOMED code724145007
nameMetaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder)
synonymsMetaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteBone structure of maxilla   70925003
Associated morphologyHypoplasia   55199003
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
OccurrenceCongenital   255399007
Finding siteStructure of metaphysis   33251002
parents
  • Skeletal dysplasia   105986008
  • Autosomal dominant hereditary disorder   11164009
  • Congenital maxillary hypoplasia   27299009
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
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
            Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome   724145007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome   724145007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of skull   118945008
          Congenital anomaly of skull   51655004
            Congenital anomaly of maxilla   128223002
              Congenital maxillary hypoplasia   27299009
                Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome   724145007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome   724145007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome   724145007

ancestors
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