Tall stature, intellectual disability, renal anomalies syndrome   1169359006

SNOMED CT code


SNOMED code1169359006
nameTall stature, intellectual disability, renal anomalies syndrome
statusactive
date introduced2021-09-30
fully specified name(s)Tall stature, intellectual disability, renal anomalies syndrome (disorder)
synonyms
  • Tall stature, intellectual disability, renal anomalies syndrome
  • Thauvin Robinet Faivre syndrome
attributes - group2
InterpretsBody height measure   50373000
Has interpretationAbove reference range   281302008
attributes - group1
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group3
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group4
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Disorder of stature   237834000
  • Developmental hereditary disorder   363070008
  • Multiple malformation syndrome with early overgrowth   48637007
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Tall stature, intellectual disability, renal anomalies syndrome   1169359006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of general physiological development   271616002
      Disorder of stature   237834000
        Tall stature, intellectual disability, renal anomalies syndrome   1169359006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Tall stature, intellectual disability, renal anomalies syndrome   1169359006

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 early overgrowth   48637007
                Tall stature, intellectual disability, renal anomalies syndrome   1169359006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of face   118930001
          Congenital anomaly of face   398302004
            Multiple malformation syndrome with facial defects as major feature   65094009
              Tall stature, intellectual disability, renal anomalies syndrome   1169359006

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Tall stature, intellectual disability, renal anomalies syndrome   1169359006

ancestors
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