Distal limb deficiency with micrognathia syndrome   722429003

SNOMED CT code


SNOMED code722429003
nameDistal limb deficiency with micrognathia syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Distal limb deficiency with micrognathia syndrome (disorder)
synonyms
  • Distal limb deficiency with micrognathia syndrome
  • 10q24 microduplication syndrome
  • Buttiens Fryns syndrome
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyHypoplasia   55199003
Finding siteBone structure of mandible   91609006
attributes - group3
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyPartial trisomy   133849008
Finding siteChromosome pair 10   56332006
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyAbnormally short growth   11182007
Finding siteEntire limb   243996003
parents
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Congenital micrognathism   32958008
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Longitudinal deficiency of limb   67341007
  • 10q partial trisomy syndrome   73035005
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Congenital anomaly of limb   60475009
          Multiple malformation syndrome with facial-limb defects as major feature   23359005
            Distal limb deficiency with micrognathia syndrome   722429003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of jaw   37156001
          Congenital anomaly of jaw   95473006
            Congenital anomaly of mandible   128224008
              Congenital micrognathism   32958008
                Distal limb deficiency with micrognathia syndrome   722429003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Distal limb deficiency with micrognathia syndrome   722429003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Distal limb deficiency with micrognathia syndrome   722429003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Deformity of limb   445144002
        Longitudinal deficiency of limb   67341007
          Distal limb deficiency with micrognathia syndrome   722429003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chromosomal disorder   409709004
        Congenital chromosomal disease   74345006
          Trisomy and partial trisomy of autosome   270521004
            Trisomy 10   205651007
              Partial trisomy of chromosome 10   726349006
                10q partial trisomy syndrome   73035005
                  Distal limb deficiency with micrognathia syndrome   722429003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Distal limb deficiency with micrognathia syndrome   722429003

ancestors
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