Hirschsprung disease with type D brachydactyly syndrome   721222007

SNOMED CT code


SNOMED code721222007
nameHirschsprung disease with type D brachydactyly syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Hirschsprung disease with type D brachydactyly syndrome (disorder)
synonymsHirschsprung disease with type D brachydactyly syndrome
attributes - group3
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteColon structure   71854001
Associated morphologyHypertrophy   56246009
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyAbnormally short growth   11182007
Finding siteEntire digit   361367007
attributes - group2
Pathological processPathological developmental process   308490002
Finding siteColon structure   71854001
OccurrenceCongenital   255399007
Associated morphologyDilatation   25322007
attributes - group4
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteAutonomic nerve structure   53520000
attributes - group5
Finding siteStructure of peripheral part of autonomic nervous system   429921001
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
parents
  • Hirschsprung's disease   204739008
  • Congenital dilatation of colon   24291004
  • Developmental hereditary disorder   363070008
  • Digestive system hereditary disorder   363080007
  • Multiple malformation syndrome with limb defect as major feature   41443008
  • Brachydactyly   43476002
  • Inherited autonomic nervous system disorder   722997000
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Disorder of the peripheral nervous system   42658009
            Congenital anomaly of the peripheral nervous system   22133005
              Hirschsprung's disease   204739008
                Hirschsprung disease with type D brachydactyly syndrome   721222007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Viscus structure finding   406123005
      Abdominal organ finding   249561001
        Bowel finding   249562008
          Finding of large intestine   118436003
            Disorder of large intestine   119523007
              Disorder of colon   128524007
                Congenital dilatation of colon   24291004
                  Hirschsprung disease with type D brachydactyly syndrome   721222007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Hirschsprung disease with type D brachydactyly syndrome   721222007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Disorder of digestive system   53619000
        Digestive system hereditary disorder   363080007
          Hirschsprung disease with type D brachydactyly syndrome   721222007

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
                Hirschsprung disease with type D brachydactyly syndrome   721222007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Deformity of limb   445144002
        Longitudinal deficiency of part of limb   716638009
          Brachydactyly   43476002
            Hirschsprung disease with type D brachydactyly syndrome   721222007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Disorder of autonomic nervous system   15241006
            Inherited autonomic nervous system disorder   722997000
              Hirschsprung disease with type D brachydactyly syndrome   721222007

ancestors
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