Autosomal recessive facio-digito-genital syndrome   725434009

SNOMED CT code


SNOMED code725434009
nameAutosomal recessive facio-digito-genital syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Autosomal recessive faciodigitogenital syndrome (disorder)
synonyms
  • Autosomal recessive facio-digito-genital syndrome
  • Aarskog-like syndrome
  • Autosomal recessive faciodigitogenital syndrome
  • Facio-digito-genital syndrome Kuwait type
  • Teebi Naguib Alawadi syndrome
attributes - group1
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
Finding siteFace structure   89545001
attributes - group2
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
Finding siteDigit structure   82680008
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteUrogenital structure   21514008
parents
  • Multiple malformation syndrome with facial-limb defects as major feature   23359005
  • Genitourinary congenital anomalies   287085006
  • Hereditary disorder by system   363137000
  • Congenital anomaly of digit   403855001
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Disorder of extremity   128605003
          Congenital anomaly of limb   60475009
            Multiple malformation syndrome with facial-limb defects as major feature   23359005
              Autosomal recessive facio-digito-genital syndrome   725434009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Congenital abnormality of lower limb and pelvic girdle   253937004
          Congenital anomaly of lower trunk   363030001
            Genitourinary congenital anomalies   287085006
              Autosomal recessive facio-digito-genital syndrome   725434009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Hereditary disorder by system   363137000
            Autosomal recessive facio-digito-genital syndrome   725434009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding by site   118234003
      Disorder by body site   123946008
        Disorder of extremity   128605003
          Disorder of digit   128597007
            Congenital anomaly of digit   403855001
              Autosomal recessive facio-digito-genital syndrome   725434009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Autosomal recessive facio-digito-genital syndrome   725434009

ancestors
sorted most to least specific
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