Microcephalic osteodysplastic primordial dwarfism types I and III   725461009

SNOMED CT code


SNOMED code725461009
nameMicrocephalic osteodysplastic primordial dwarfism types I and III
statusactive
date introduced2017-07-31
fully specified name(s)Microcephalic osteodysplastic primordial dwarfism types I and III (disorder)
synonyms
  • Microcephalic osteodysplastic primordial dwarfism types I and III
  • Microcephalic osteodysplastic primordial dwarfism Taybi Linder type
  • Primordial microcephalic dwarfism Crachami type
  • Taybi Linder syndrome
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteBone structure   272673000
Associated morphologyDysplasia   25723000
attributes - group2
Pathological processPathological developmental process   308490002
Finding siteHead structure   69536005
OccurrenceCongenital   255399007
Associated morphologyCongenital smallness   41086002
attributes - group3
InterpretsHeight / growth measure   271603002
Has interpretationBelow reference range   281300000
attributes - group4
Has interpretationBelow reference range   281300000
InterpretsBirth head circumference   169876006
parents
  • Congenital microcephaly   1148758003
  • Osteodysplastic primordial dwarfism   254101001
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Body measurement finding   365605003
      Finding of head circumference   301338002
        Microcephaly   1148757008
          Congenital microcephaly   1148758003
            Microcephalic osteodysplastic primordial dwarfism types I and III   725461009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Osteodysplastic primordial dwarfism   254101001
              Microcephalic osteodysplastic primordial dwarfism types I and III   725461009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Microcephalic osteodysplastic primordial dwarfism types I and III   725461009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Microcephalic osteodysplastic primordial dwarfism types I and III   725461009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Microcephalic osteodysplastic primordial dwarfism types I and III   725461009

ancestors
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