Lung agenesis with heart defect and thumb anomaly syndrome   721976003

SNOMED CT code


SNOMED code721976003
nameLung agenesis with heart defect and thumb anomaly syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Lung agenesis with heart defect and thumb anomaly syndrome (disorder)
synonyms
  • Mardini Nyhan syndrome
  • Lung agenesis with heart defect and thumb anomaly syndrome
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteLung structure   39607008
Associated morphologyAplasia   45486003
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteHeart structure   80891009
Associated morphologyMorphologically abnormal structure   49755003
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteThumb structure   76505004
parents
  • Congenital heart disease   13213009
  • Cardiovascular system hereditary disorder   363005004
  • Developmental hereditary disorder   363070008
  • Congenital malformation of thumb   394910004
  • Multiple malformation syndrome with limb defect as major feature   41443008
  • Congenital aplasia of lung   702612001
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Cardiac finding   301095005
        Heart disease   56265001
          Structural disorder of heart   128599005
            Congenital heart disease   13213009
              Lung agenesis with heart defect and thumb anomaly syndrome   721976003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Disorder of cardiovascular system   49601007
        Cardiovascular system hereditary disorder   363005004
          Lung agenesis with heart defect and thumb anomaly syndrome   721976003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Lung agenesis with heart defect and thumb anomaly syndrome   721976003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Disorder of limb   128605003
        Disorder of digit   128597007
          Congenital anomaly of digit   403855001
            Congenital malformation of thumb   394910004
              Lung agenesis with heart defect and thumb anomaly syndrome   721976003

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
                Lung agenesis with heart defect and thumb anomaly syndrome   721976003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Respiratory finding   106048009
      Lower respiratory tract finding   301226008
        Congenital anomaly of lower respiratory system   123654008
          Congenital anomaly of lung   47147007
            Congenital absence of lung   66489009
              Congenital aplasia of lung   702612001
                Lung agenesis with heart defect and thumb anomaly syndrome   721976003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Lung agenesis with heart defect and thumb anomaly syndrome   721976003

ancestors
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