NPHP3-related Meckel-like syndrome   773737004

SNOMED CT code


SNOMED code773737004
nameNPHP3-related Meckel-like syndrome
statusactive
date introduced2019-01-31
fully specified name(s)Nephrocystin 3-related Meckel-like syndrome (disorder)
synonyms
  • Meckel syndrome type 7
  • NPHP3-related Meckel-like syndrome
  • Nephrocystin 3-related Meckel-like syndrome
  • Goldston syndrome
  • Meckel-like syndrome type 1
  • NPHP3 (nephrocystin 3) related Meckel-like syndrome
  • Renal, hepatic, pancreatic dysplasia, Dandy-Walker cysts syndrome
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
Finding siteCentral nervous system structure   21483005
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
attributes - group3
Finding siteLiver structure   10200004
Associated morphologyFibrosis   112674009
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
attributes - group2
Finding siteKidney structure   64033007
Associated morphologyPolycystic change   3679006
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
parents
  • Congenital anomaly of central nervous system   128124001
  • Developmental hereditary disorder   363070008
  • Digestive system hereditary disorder   363080007
  • Hereditary disorder of nervous system   363235000
  • Hereditary nephropathy   367591000119105
  • Congenital anomaly of the kidney   44513007
  • Congenital hepatic fibrosis   79607001
  • Multiple system malformation syndrome   82354003
  • Multiple congenital cysts of kidney   82525005
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Disorder of the central nervous system   23853001
        Congenital anomaly of central nervous system   128124001
          NPHP3-related Meckel-like syndrome   773737004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          NPHP3-related Meckel-like syndrome   773737004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Disorder of digestive system   53619000
        Digestive system hereditary disorder   363080007
          NPHP3-related Meckel-like syndrome   773737004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Hereditary disorder of nervous system   363235000
            NPHP3-related Meckel-like syndrome   773737004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Viscus structure finding   406123005
      Abdominal organ finding   249561001
        Kidney finding   249578005
          Kidney disease   90708001
            Hereditary nephropathy   367591000119105
              NPHP3-related Meckel-like syndrome   773737004

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
              NPHP3-related Meckel-like syndrome   773737004

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
              NPHP3-related Meckel-like syndrome   773737004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              NPHP3-related Meckel-like syndrome   773737004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital renal cyst   369071000119105
          Multiple congenital cysts of kidney   82525005
            NPHP3-related Meckel-like syndrome   773737004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              NPHP3-related Meckel-like syndrome   773737004

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