765331004: Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Skin AND/OR mucosa finding\Skin finding\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

\Viscus structure finding\Abdominal organ finding\Kidney finding\...

\Renal mass\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

\Kidney disease\Hereditary nephropathy\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Kidney disease\Kidney lesion\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Kidney disease\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\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 malformation of the urinary system\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Retroperitoneal cyst\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Kidney lesion\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Cyst of abdomen\Retroperitoneal cyst\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\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 malformation of the urinary system\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Kidney lesion\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal mass\Cyst of abdomen\Retroperitoneal cyst\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal mass\Retroperitoneal mass\Renal mass\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal mass\Retroperitoneal mass\Retroperitoneal cyst\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Renal mass\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Kidney lesion\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Retroperitoneal cyst\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Kidney lesion\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Cyst of abdomen\Retroperitoneal cyst\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Mass of urogenital structure\Mass of urinary tract structure\Renal mass\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Mass of urinary tract structure\Renal mass\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Renal mass\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Kidney lesion\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Kidney lesion\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Kidney lesion\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Mass of trunk\Mass of urogenital structure\Mass of urinary tract structure\Renal mass\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Mass of trunk\Abdominal mass\Cyst of abdomen\Retroperitoneal cyst\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Mass of trunk\Abdominal mass\Retroperitoneal mass\Renal mass\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Mass of trunk\Abdominal mass\Retroperitoneal mass\Retroperitoneal cyst\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Retroperitoneal cyst\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Kidney lesion\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Cyst of abdomen\Retroperitoneal cyst\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Kidney lesion\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

\Mass of body structure\Mass of soft tissue\Neoplasm of soft tissue\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Mass of body structure\Mass of soft tissue\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Mass of body structure\Neoplasm of integumentary system\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Mass of body structure\Mass of body region\Mass of trunk\Mass of urogenital structure\Mass of urinary tract structure\Renal mass\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Mass of body structure\Mass of body region\Mass of trunk\Abdominal mass\Cyst of abdomen\Retroperitoneal cyst\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Mass of body structure\Mass of body region\Mass of trunk\Abdominal mass\Retroperitoneal mass\Renal mass\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Mass of body structure\Mass of body region\Mass of trunk\Abdominal mass\Retroperitoneal mass\Retroperitoneal cyst\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Mass of body structure\Mass of body region\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Mass of body structure\Space-occupying lesion of nervous system\Neoplasm of nervous system\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

\Neurological lesion\Space-occupying lesion of nervous system\Neoplasm of nervous system\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

\General finding of soft tissue\Mass of soft tissue\Neoplasm of soft tissue\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\General finding of soft tissue\Mass of soft tissue\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\General finding of soft tissue\Skin finding\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

\Central nervous system finding\Disorder of the central nervous system\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

\Integumentary system finding\Disorder of integument\Neoplasm of integumentary system\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Integumentary system finding\Skin finding\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

\Disease\Genetic disease\Hereditary disease\Hereditary neoplastic syndrome\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Cyst\Cyst of abdomen\Retroperitoneal cyst\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of integumentary system\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of soft tissue\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of nervous system\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of body system\Disorder of integument\Neoplasm of integumentary system\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of body system\Neurological disorder\Neoplasm of nervous system\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Kidney lesion\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Retroperitoneal cyst\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Kidney lesion\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Cyst of abdomen\Retroperitoneal cyst\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Kidney lesion\Cyst of kidney\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Congenital disease\Congenital renal cyst\Polycystic kidney disease\Autosomal dominant polycystic kidney disease\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Congenital disease\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Developmental disorder\Developmental hereditary disorder\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3657948011 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3657949015 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis en Synonym Active Case insensitive SNOMED CT core

3657950015 Tuberous sclerosis, polycystic kidney disease contiguous gene syndrome en Synonym Active Case insensitive SNOMED CT core

3657951016 Disease with characteristics of early-onset severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). A contiguous gene syndrome caused by a large deletion involving both the PKD1 and TSC2 genes (16p13.3). Transmission is autosomal dominant. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	3
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Pathological process	Pathological developmental process	false	Inferred relationship	Some	3
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Is a	Congenital anomaly of the kidney	true	Inferred relationship	Some
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Associated morphology	Hamartoma	false	Inferred relationship	Some	4
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Occurrence	Congenital	true	Inferred relationship	Some	4
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Pathological process	Pathological developmental process	false	Inferred relationship	Some	4
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Finding site	Structure of multiple topographic sites	true	Inferred relationship	Some	4
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Is a	Congenital anomaly of skin	true	Inferred relationship	Some
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Associated morphology	Neoplasm	true	Inferred relationship	Some	5
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Finding site	Structure of nervous system	true	Inferred relationship	Some	5
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Occurrence	Congenital	true	Inferred relationship	Some	5
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Finding site	Skin structure	true	Inferred relationship	Some	6
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Occurrence	Congenital	true	Inferred relationship	Some	6
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Associated morphology	Neoplasm	true	Inferred relationship	Some	6
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Finding site	Structure of central nervous system	true	Inferred relationship	Some	3
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Associated morphology	Neoplasm and/or hamartoma	true	Inferred relationship	Some	3
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Associated morphology	Neoplasm and/or hamartoma	true	Inferred relationship	Some	4
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Is a	Autosomal dominant polycystic kidney disease	true	Inferred relationship	Some
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Occurrence	Congenital	true	Inferred relationship	Some	3
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Finding site	Structure of nervous system	false	Inferred relationship	Some	1
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Is a	Tuberous sclerosis syndrome	true	Inferred relationship	Some
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Occurrence	Congenital	true	Inferred relationship	Some	2
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Due to	Hamartoma	false	Inferred relationship	Some	4
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	1
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Finding site	Kidney structure	true	Inferred relationship	Some	1
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Associated morphology	Polycystic change	true	Inferred relationship	Some	1
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Finding site	Structure of nervous system	false	Inferred relationship	Some	3
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Finding site	Skin structure	true	Inferred relationship	Some	2
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Associated morphology	Polycystic change	false	Inferred relationship	Some	3
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Finding site	Kidney structure	false	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3657948011	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3657949015	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3657950015	Tuberous sclerosis, polycystic kidney disease contiguous gene syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3657951016	Disease with characteristics of early-onset severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). A contiguous gene syndrome caused by a large deletion involving both the PKD1 and TSC2 genes (16p13.3). Transmission is autosomal dominant.	en	Definition	Active	Case sensitive	SNOMED CT core