715989002: Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Anorectal disorder\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Anorectal disorder\Disorder of anus\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Anorectal disorder\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Anorectal disorder\Disorder of anus\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of perineum\Disorder of anal region\Disorder of anus\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of perineum\Congenital anomaly of perineum\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Anorectal disorder\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Anorectal disorder\Disorder of anus\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Disorder of pelvic region of trunk\Disorder of perineum\Disorder of anal region\Disorder of anus\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Disorder of pelvic region of trunk\Disorder of perineum\Congenital anomaly of perineum\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Disorder of pelvic region of trunk\Anorectal disorder\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Disorder of pelvic region of trunk\Anorectal disorder\Disorder of anus\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Perineal finding\Disorder of perineum\Disorder of anal region\Disorder of anus\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of pelvic region of trunk\Perineal finding\Disorder of perineum\Congenital anomaly of perineum\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of perineum\Disorder of anal region\Disorder of anus\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of perineum\Congenital anomaly of perineum\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Anorectal disorder\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Anorectal disorder\Disorder of anus\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome

\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Anorectal disorder\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Anorectal disorder\Disorder of anus\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of perineum\Disorder of anal region\Disorder of anus\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Disorder of perineum\Congenital anomaly of perineum\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Anorectal disorder\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk\Anorectal disorder\Disorder of anus\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of perineum\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Anorectal anomaly\Congenital anomaly of anus\Anal atresia\Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3304344013 Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3304345014 Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome en Synonym Active Case insensitive SNOMED CT core

3304346010 Karandikar Maria Kamble syndrome en Synonym Active Case sensitive SNOMED CT core

3304347018 This syndrome has main feature of congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies. It has been described in three siblings born to nonconsanguineous parents. It is likely to be transmitted as an autosomal recessive trait. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome	Finding site	Anal structure	true	Inferred relationship	Some	1
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome	Associated morphology	Congenital atresia	true	Inferred relationship	Some	1
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome	Finding site	Structure of genitourinary system	true	Inferred relationship	Some	2
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome	Associated morphology	Cataract	false	Inferred relationship	Some	3
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome	Associated morphology	Abnormally opaque structure	true	Inferred relationship	Some	3
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome	Is a	Digestive system hereditary disorder	true	Inferred relationship	Some
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	4
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	5
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome	Associated morphology	Congenital cataract	false	Inferred relationship	Some	5
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome	Finding site	Structure of lens of eye	false	Inferred relationship	Some	5
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome	Is a	Congenital cataract	true	Inferred relationship	Some
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome	Is a	Anal atresia	true	Inferred relationship	Some
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome	Is a	Genitourinary congenital anomalies	true	Inferred relationship	Some
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome	Finding site	Structure of lens of eye	true	Inferred relationship	Some	3
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome	Finding site	Structure of genitourinary system	false	Inferred relationship	Some	4
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome	Associated morphology	Congenital atresia	false	Inferred relationship	Some	3
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome	Finding site	Anal structure	false	Inferred relationship	Some	3
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3304344013	Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3304345014	Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3304346010	Karandikar Maria Kamble syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3304347018	This syndrome has main feature of congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies. It has been described in three siblings born to nonconsanguineous parents. It is likely to be transmitted as an autosomal recessive trait.	en	Definition	Active	Case sensitive	SNOMED CT core