Hepatic fibrosis, renal cyst, intellectual disability syndrome   771149000

SNOMED CT code


SNOMED code771149000
nameHepatic fibrosis, renal cyst, intellectual disability syndrome
statusactive
date introduced2019-01-31
fully specified name(s)Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder)
synonyms
  • Hepatic fibrosis, renal cyst, intellectual disability syndrome
  • Thompson Baraitser syndrome
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyPolycystic change   3679006
Finding siteKidney structure   64033007
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
attributes - group3
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyFibrosis   112674009
Finding siteLiver structure   10200004
attributes - group4
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group5
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Congenital anomaly of the kidney   44513007
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Congenital hepatic fibrosis   79607001
  • Multiple congenital cysts of kidney   82525005
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
          Hepatic fibrosis, renal cyst, intellectual disability syndrome   771149000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Viscus structure finding   406123005
      Abdominal organ finding   249561001
        Kidney finding   249578005
          Kidney disease   90708001
            Congenital anomaly of the kidney   44513007
              Hepatic fibrosis, renal cyst, intellectual disability syndrome   771149000

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
              Hepatic fibrosis, renal cyst, intellectual disability syndrome   771149000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Liver finding   249565005
        Disease of liver   235856003
          Congenital anomaly of liver   89166001
            Congenital hepatic fibrosis   79607001
              Hepatic fibrosis, renal cyst, intellectual disability syndrome   771149000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital renal cyst   369071000119105
          Multiple congenital cysts of kidney   82525005
            Hepatic fibrosis, renal cyst, intellectual disability syndrome   771149000

ancestors
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