Hirschsprung disease with nail hypoplasia and dysmorphism   721223002

SNOMED CT code


SNOMED code721223002
nameHirschsprung disease with nail hypoplasia and dysmorphism
statusactive
date introduced2017-01-31
fully specified name(s)Hirschsprung disease with nail hypoplasia and dysmorphism (disorder)
synonyms
  • Hirschsprung disease with nail hypoplasia and dysmorphism
  • Al Gazali Donnai Muller syndrome
attributes - group4
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteColon structure   71854001
Associated morphologyDilatation   25322007
attributes - group3
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyHypoplasia   55199003
Finding siteNail unit structure   770802007
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteColon structure   71854001
Associated morphologyHypertrophy   56246009
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteBone structure of face   91397008
Associated morphologyMorphologically abnormal structure   49755003
attributes - group5
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteAutonomic nerve structure   53520000
attributes - group6
Finding siteStructure of peripheral part of autonomic nervous system   429921001
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
parents
  • Hirschsprung's disease   204739008
  • Congenital dilatation of colon   24291004
  • Congenital anomaly of face bones   32003007
  • Congenital anomaly of nail   35964007
  • Developmental hereditary disorder   363070008
  • Digestive system hereditary disorder   363080007
  • Hereditary disorder of the integument   363185004
  • Hereditary disorder of musculoskeletal system   363212003
  • Genetic disorder of nail   402775007
  • Inherited autonomic nervous system disorder   722997000
  • Multiple system malformation syndrome   82354003
  • Autosomal recessive hereditary disorder   85995004
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 nail hypoplasia and dysmorphism   721223002

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 nail hypoplasia and dysmorphism   721223002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Bone finding   118953000
        Facial bone finding   248398006
          Disorder of facial bone   128225009
            Congenital anomaly of face bones   32003007
              Hirschsprung disease with nail hypoplasia and dysmorphism   721223002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental abnormality of nail   238715009
          Congenital anomaly of nail   35964007
            Hirschsprung disease with nail hypoplasia and dysmorphism   721223002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Hirschsprung disease with nail hypoplasia and dysmorphism   721223002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Disorder of digestive system   53619000
        Digestive system hereditary disorder   363080007
          Hirschsprung disease with nail hypoplasia and dysmorphism   721223002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Hirschsprung disease with nail hypoplasia and dysmorphism   721223002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Hirschsprung disease with nail hypoplasia and dysmorphism   721223002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Genetic disorder of nail   402775007
          Hirschsprung disease with nail hypoplasia and dysmorphism   721223002

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 nail hypoplasia and dysmorphism   721223002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Hirschsprung disease with nail hypoplasia and dysmorphism   721223002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Hirschsprung disease with nail hypoplasia and dysmorphism   721223002

ancestors
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