733650000: Adult familial nephronophthisis with spastic quadriparesia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Renal mass\Cyst of kidney\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome

\Kidney disease\Kidney lesion\Cyst of kidney\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Kidney disease\Kidney lesion\Renal fibrosis\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Kidney disease\Disorder of renal parenchyma\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome

\Finding of limb structure\Muscle weakness of limb\Muscle weakness of upper limb\Tetraparesis\Spastic tetraparesis\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of left upper extremity\Tetraparesis\Spastic tetraparesis\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of right upper extremity\Tetraparesis\Spastic tetraparesis\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of left lower extremity\Tetraparesis\Spastic tetraparesis\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of right lower extremity\Tetraparesis\Spastic tetraparesis\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of left lower extremity\Tetraparesis\Spastic tetraparesis\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of right lower extremity\Tetraparesis\Spastic tetraparesis\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Finding of limb structure\Finding of lower limb\Paresis of lower limb\Paresis of right lower limb\Tetraparesis\Spastic tetraparesis\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Finding of limb structure\Finding of lower limb\Paresis of lower limb\Paresis of left lower limb\Tetraparesis\Spastic tetraparesis\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Finding of limb structure\Finding of upper limb\Muscle weakness of upper limb\Tetraparesis\Spastic tetraparesis\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of left upper extremity\Tetraparesis\Spastic tetraparesis\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of right upper extremity\Tetraparesis\Spastic tetraparesis\Adult familial nephronophthisis with spastic quadriparesia syndrome

\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\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\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\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\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\Renal fibrosis\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\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\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\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\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\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\Renal fibrosis\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\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\Disorder of renal parenchyma\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal mass\Cyst of abdomen\Retroperitoneal cyst\Cyst of kidney\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal mass\Retroperitoneal mass\Renal mass\Cyst of kidney\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal mass\Retroperitoneal mass\Retroperitoneal cyst\Cyst of kidney\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Renal mass\Cyst of kidney\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\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\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Kidney lesion\Renal fibrosis\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Retroperitoneal cyst\Cyst of kidney\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\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\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Kidney lesion\Renal fibrosis\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Cyst of abdomen\Retroperitoneal cyst\Cyst of kidney\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\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\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\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\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Renal mass\Cyst of kidney\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Kidney lesion\Cyst of kidney\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Kidney lesion\Renal fibrosis\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\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\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\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\Renal fibrosis\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\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\Disorder of renal parenchyma\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\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\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\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\Renal fibrosis\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\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\Disorder of renal parenchyma\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Finding of trunk structure\Mass of trunk\Mass of urogenital structure\Mass of urinary tract structure\Renal mass\Cyst of kidney\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Finding of trunk structure\Mass of trunk\Abdominal mass\Cyst of abdomen\Retroperitoneal cyst\Cyst of kidney\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Finding of trunk structure\Mass of trunk\Abdominal mass\Retroperitoneal mass\Renal mass\Cyst of kidney\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Finding of trunk structure\Mass of trunk\Abdominal mass\Retroperitoneal mass\Retroperitoneal cyst\Cyst of kidney\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Retroperitoneal cyst\Cyst of kidney\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\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\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Kidney lesion\Renal fibrosis\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Cyst of abdomen\Retroperitoneal cyst\Cyst of kidney\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\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\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\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\Renal fibrosis\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\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\Disorder of renal parenchyma\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome

\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\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome

\Abdominal mass\Cyst of abdomen\Retroperitoneal cyst\Cyst of kidney\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Abdominal mass\Retroperitoneal mass\Renal mass\Cyst of kidney\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Abdominal mass\Retroperitoneal mass\Retroperitoneal cyst\Cyst of kidney\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome

\General finding of soft tissue\Finding of power of skeletal muscle\Muscle weakness\Muscle weakness of limb\Muscle weakness of upper limb\Tetraparesis\Spastic tetraparesis\Adult familial nephronophthisis with spastic quadriparesia syndrome
\General finding of soft tissue\Finding of power of skeletal muscle\Muscle weakness\Paresis of lower limb\Paresis of right lower limb\Tetraparesis\Spastic tetraparesis\Adult familial nephronophthisis with spastic quadriparesia syndrome
\General finding of soft tissue\Finding of power of skeletal muscle\Muscle weakness\Paresis of lower limb\Paresis of left lower limb\Tetraparesis\Spastic tetraparesis\Adult familial nephronophthisis with spastic quadriparesia syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Tetraparesis\Spastic tetraparesis\Adult familial nephronophthisis with spastic quadriparesia syndrome

\Central nervous system finding\Disorder of the central nervous system\Spastic syndrome\Spastic tetraparesis\Adult familial nephronophthisis with spastic quadriparesia syndrome

\Muscle finding\Finding of power of skeletal muscle\Muscle weakness\Muscle weakness of limb\Muscle weakness of upper limb\Tetraparesis\Spastic tetraparesis\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Muscle finding\Finding of power of skeletal muscle\Muscle weakness\Paresis of lower limb\Paresis of right lower limb\Tetraparesis\Spastic tetraparesis\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Muscle finding\Finding of power of skeletal muscle\Muscle weakness\Paresis of lower limb\Paresis of left lower limb\Tetraparesis\Spastic tetraparesis\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Muscle finding\Myopathy\Disorder of skeletal muscle\Tetraparesis\Spastic tetraparesis\Adult familial nephronophthisis with spastic quadriparesia syndrome

\Musculoskeletal finding\Finding of power of skeletal muscle\Muscle weakness\Muscle weakness of limb\Muscle weakness of upper limb\Tetraparesis\Spastic tetraparesis\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Musculoskeletal finding\Finding of power of skeletal muscle\Muscle weakness\Paresis of lower limb\Paresis of right lower limb\Tetraparesis\Spastic tetraparesis\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Musculoskeletal finding\Finding of power of skeletal muscle\Muscle weakness\Paresis of lower limb\Paresis of left lower limb\Tetraparesis\Spastic tetraparesis\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal muscle\Tetraparesis\Spastic tetraparesis\Adult familial nephronophthisis with spastic quadriparesia syndrome

\Disease\Cyst\Cyst of abdomen\Retroperitoneal cyst\Cyst of kidney\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Spastic syndrome\Spastic tetraparesis\Adult familial nephronophthisis with spastic quadriparesia syndrome
\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\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\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\Renal fibrosis\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Tetraparesis\Spastic tetraparesis\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Disease\Myopathy\Disorder of skeletal muscle\Tetraparesis\Spastic tetraparesis\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of left upper extremity\Tetraparesis\Spastic tetraparesis\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of right upper extremity\Tetraparesis\Spastic tetraparesis\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of left lower extremity\Tetraparesis\Spastic tetraparesis\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of right lower extremity\Tetraparesis\Spastic tetraparesis\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Retroperitoneal cyst\Cyst of kidney\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Kidney lesion\Cyst of kidney\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Kidney lesion\Renal fibrosis\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Cyst of abdomen\Retroperitoneal cyst\Cyst of kidney\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\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\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\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\Renal fibrosis\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\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\Disorder of renal parenchyma\Medullary cystic kidney disease\Medullary cystic disease, adult type\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Disease\Familial disease\Adult familial nephronophthisis with spastic quadriparesia syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Tetraparesis\Spastic tetraparesis\Adult familial nephronophthisis with spastic quadriparesia syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3472998010 Adult familial nephronophthisis with spastic quadriparesia syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3472999019 Adult familial nephronophthisis with spastic quadriparesia syndrome en Synonym Active Case insensitive SNOMED CT core

3473000018 This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Adult familial nephronophthisis with spastic quadriparesia syndrome	Finding site	Skeletal muscle structure of right lower limb	true	Inferred relationship	Some	1
Adult familial nephronophthisis with spastic quadriparesia syndrome	Finding site	Structure of skeletal muscle of left upper limb	true	Inferred relationship	Some	4
Adult familial nephronophthisis with spastic quadriparesia syndrome	Finding site	Skeletal muscle structure of left lower limb	true	Inferred relationship	Some	5
Adult familial nephronophthisis with spastic quadriparesia syndrome	Finding site	Structure of skeletal muscle of right upper limb	true	Inferred relationship	Some	6
Adult familial nephronophthisis with spastic quadriparesia syndrome	Is a	Familial disease	true	Inferred relationship	Some
Adult familial nephronophthisis with spastic quadriparesia syndrome	Is a	Medullary cystic disease, adult type	true	Inferred relationship	Some
Adult familial nephronophthisis with spastic quadriparesia syndrome	Is a	Spastic tetraparesis	true	Inferred relationship	Some
Adult familial nephronophthisis with spastic quadriparesia syndrome	Finding site	Structure of central nervous system	true	Inferred relationship	Some	2
Adult familial nephronophthisis with spastic quadriparesia syndrome	Finding site	Limb structure	false	Inferred relationship	Some	1
Adult familial nephronophthisis with spastic quadriparesia syndrome	Associated morphology	Fibrocystic change	true	Inferred relationship	Some	3
Adult familial nephronophthisis with spastic quadriparesia syndrome	Finding site	Structure of medulla of kidney	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3472998010	Adult familial nephronophthisis with spastic quadriparesia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3472999019	Adult familial nephronophthisis with spastic quadriparesia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3473000018	This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients.	en	Definition	Active	Case sensitive	SNOMED CT core