B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome   1230295000

SNOMED CT code


SNOMED code1230295000
nameB-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
statusactive
date introduced2022-06-30
fully specified name(s)B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
synonyms
  • BILU (B-cell immunodeficiency, limb, urogenital) syndrome
  • B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome
attributes - group1
OccurrenceCongenital   255399007
Finding siteUrogenital structure   21514008
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group2
OccurrenceCongenital   255399007
Finding siteFoot structure   56459004
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group3
OccurrenceCongenital   255399007
Finding siteHand structure   85562004
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group4
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group5
OccurrenceCongenital   255399007
Pathological processAbnormal immune process   769247005
parents
  • Congenital agammaglobulinemia   116133005
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Congenital anomaly of foot   253966001
  • Genitourinary congenital anomalies   287085006
  • Congenital anomaly of hand   34111000
  • Genetic disease   782964007
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital immunodeficiency disease   36138009
          Congenital agammaglobulinemia   116133005
            B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome   1230295000

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
            B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome   1230295000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Finding of lower limb   116312005
        Disorder of lower limb   118937003
          Congenital anomaly of lower limb   84773003
            Congenital anomaly of foot   253966001
              B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome   1230295000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of the genitourinary system   42030000
          Genitourinary congenital anomalies   287085006
            B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome   1230295000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of limb structure   302293008
      Finding of upper limb   116307009
        Finding of hand region   116311003
          Disorder of hand   118933004
            Congenital anomaly of hand   34111000
              B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome   1230295000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome   1230295000

ancestors
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