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
  • Developmental hereditary disorder   363070008
  • 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 of limb structure   302293008
      Disorder of limb   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
    Disease   64572001
      Disorder of body system   362965005
        Disorder of the genitourinary system   42030000
          Genitourinary congenital anomalies   287085006
            Autosomal recessive facio-digito-genital syndrome   725434009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Autosomal recessive facio-digito-genital syndrome   725434009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Hereditary disorder by system   363137000
          Autosomal recessive facio-digito-genital syndrome   725434009

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
            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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