783620009: Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Hereditary nephropathy\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis

\Disorder of renal parenchyma\Renal tubular disorder\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis

\Metabolic renal disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis

\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\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\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\Renal tubular disorder\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\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\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\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\Renal tubular disorder\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\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\Metabolic renal disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\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\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\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\Urinary complication\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Metabolic renal disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\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\Renal tubular disorder\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Metabolic renal disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\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\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\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\Renal tubular disorder\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\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\Metabolic renal disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\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\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Urinary complication\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\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\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\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\Renal tubular disorder\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\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\Metabolic renal disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\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\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Urinary complication\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\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\Renal tubular disorder\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\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\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\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\Renal tubular disorder\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\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\Metabolic renal disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\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\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Urinary complication\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis

\Musculoskeletal finding\Bone finding\Disorder of bone\Lesion of bone\Autosomal dominant hypophosphataemic bone disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with defective mineralisation\Autosomal dominant hypophosphataemic bone disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Autosomal dominant hypophosphataemic bone disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Autosomal dominant hypophosphataemic bone disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with defective mineralisation\Autosomal dominant hypophosphataemic bone disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Lesion of bone\Autosomal dominant hypophosphataemic bone disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with defective mineralisation\Autosomal dominant hypophosphataemic bone disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Autosomal dominant hypophosphataemic bone disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with defective mineralisation\Autosomal dominant hypophosphataemic bone disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralisation\Autosomal dominant hypophosphataemic bone disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant hypophosphataemic bone disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal dominant hypophosphataemic bone disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant hypophosphataemic bone disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant hypophosphataemic bone disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\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\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\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\Renal tubular disorder\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Metabolic renal disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Urinary complication\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Autosomal dominant hypophosphataemic bone disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with defective mineralisation\Autosomal dominant hypophosphataemic bone disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Lesion of bone\Autosomal dominant hypophosphataemic bone disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with defective mineralisation\Autosomal dominant hypophosphataemic bone disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Autosomal dominant hypophosphataemic bone disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with defective mineralisation\Autosomal dominant hypophosphataemic bone disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralisation\Autosomal dominant hypophosphataemic bone disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Renal tubular disorder\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Metabolic renal disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\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\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\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\Renal tubular disorder\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\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\Metabolic renal disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\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\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Urinary complication\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Disease\Metabolic disease\Metabolic renal disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Disease\Metabolic disease\Metabolic bone disease\Autosomal dominant hypophosphataemic bone disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder of phosphate, calcium and vitamin D metabolism\Phosphorus metabolism disorder\Hypophosphataemia\Autosomal dominant hypophosphataemic bone disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with defective mineralisation\Autosomal dominant hypophosphataemic bone disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralisation\Autosomal dominant hypophosphataemic bone disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with defective mineralisation\Autosomal dominant hypophosphataemic bone disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Disease\Developmental disorder\Developmental hereditary disorder\Autosomal dominant hypophosphataemic bone disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with defective mineralisation\Autosomal dominant hypophosphataemic bone disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralisation\Autosomal dominant hypophosphataemic bone disease\Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3759533019 Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis en Synonym Active Case insensitive SNOMED CT core

3759536010 Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3759537018 Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis en Synonym Active Case insensitive SNOMED CT core

3759534013 A rare genetic renal tubular disease characterized by hypophosphatemia, decreased renal phosphate resorption and hypercalciuria leading to calcium nephrolithiasis and/or nephrocalcinosis and osteoporosis, in the presence of normal/increased serum calcitriol levels. en Definition Active Case sensitive SNOMED CT core

3759535014 A rare genetic renal tubular disease characterised by hypophosphataemia, decreased renal phosphate resorption and hypercalciuria leading to calcium nephrolithiasis and/or nephrocalcinosis and osteoporosis, in the presence of normal/increased serum calcitriol levels. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis	Finding site	Osteoid tissue	true	Inferred relationship	Some	1
Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis	Is a	Hereditary nephropathy	true	Inferred relationship	Some
Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis	Is a	Renal tubular disorder	true	Inferred relationship	Some
Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis	Is a	Autosomal dominant hypophosphataemic bone disease	true	Inferred relationship	Some
Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis	Due to	Specific renal tubule transport defect	false	Inferred relationship	Some	3
Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis	Finding site	Renal tubule structure	false	Inferred relationship	Some	2
Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis	Occurrence	Congenital	false	Inferred relationship	Some	4
Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis	Pathological process	Pathological developmental process	false	Inferred relationship	Some	4
Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis	Associated morphology	Impaired mineralisation	false	Inferred relationship	Some	4
Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis	Finding site	Bone structure	false	Inferred relationship	Some	4
Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis	Occurrence	Congenital	true	Inferred relationship	Some	3
Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis	Associated morphology	Impaired mineralisation	true	Inferred relationship	Some	2
Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis	Finding site	Bone structure	true	Inferred relationship	Some	2
Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis	Occurrence	Congenital	true	Inferred relationship	Some	2
Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis	Finding site	Renal tubule structure	true	Inferred relationship	Some	3
Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis	Due to	Specific renal tubule transport defect	true	Inferred relationship	Some	4
Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis	Is a	Urinary complication	true	Inferred relationship	Some
Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis	Is a	Metabolic renal disease	true	Inferred relationship	Some

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
3759533019	Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3759536010	Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3759537018	Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3759534013	A rare genetic renal tubular disease characterized by hypophosphatemia, decreased renal phosphate resorption and hypercalciuria leading to calcium nephrolithiasis and/or nephrocalcinosis and osteoporosis, in the presence of normal/increased serum calcitriol levels.	en	Definition	Active	Case sensitive	SNOMED CT core
3759535014	A rare genetic renal tubular disease characterised by hypophosphataemia, decreased renal phosphate resorption and hypercalciuria leading to calcium nephrolithiasis and/or nephrocalcinosis and osteoporosis, in the presence of normal/increased serum calcitriol levels.	en	Definition	Active	Case sensitive	SNOMED CT core