Karandikar Maria Kamble syndrome   715989002

SNOMED CT code


SNOMED code715989002
nameKarandikar Maria Kamble syndrome
statusactive
date introduced2016-07-31
fully specified name(s)Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder)
synonyms
  • Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
  • Karandikar Maria Kamble syndrome
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyOpacity   128305008
OccurrenceCongenital   255399007
Finding siteLens clear   78076003
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteUrogenital structure   21514008
Associated morphologyMorphologically abnormal structure   49755003
attributes - group1
Pathological processPathological developmental process   308490002
Finding siteAnal structure   53505006
OccurrenceCongenital   255399007
Associated morphologyCongenital atresia   56457002
attributes - group4
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group5
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
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
          Karandikar Maria Kamble syndrome   715989002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Gastrointestinal tract finding   386618008
        Anal finding   249628000
          Disorder of anus   32110003
            Congenital anomaly of anus   11194003
              Anal atresia   204712000
                Karandikar Maria Kamble syndrome   715989002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of the genitourinary system   42030000
          Genitourinary congenital anomalies   287085006
            Karandikar Maria Kamble syndrome   715989002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Karandikar Maria Kamble syndrome   715989002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Disorder of digestive system   53619000
        Digestive system hereditary disorder   363080007
          Karandikar Maria Kamble syndrome   715989002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Karandikar Maria Kamble syndrome   715989002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disorder of eye   62585004
          Cataract   193570009
            Congenital cataract   79410001
              Karandikar Maria Kamble syndrome   715989002

ancestors
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