726081005: Hereditary hypophosphatemic rickets with hypercalciuria (disorder)

SNOMED CT Concept\Clinical finding\...

\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 hypophosphataemic rickets with hypercalciuria
\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\Symptomatic disorders of the urinary tract\Hypercalciuria\Hereditary hypophosphataemic rickets with hypercalciuria
\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 hypophosphataemic rickets with hypercalciuria
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Symptomatic disorders of the urinary tract\Hypercalciuria\Hereditary hypophosphataemic rickets with hypercalciuria
\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 hypophosphataemic rickets with hypercalciuria
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Symptomatic disorders of the urinary tract\Hypercalciuria\Hereditary hypophosphataemic rickets with hypercalciuria
\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 hypophosphataemic rickets with hypercalciuria
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Symptomatic disorders of the urinary tract\Hypercalciuria\Hereditary hypophosphataemic rickets with hypercalciuria

\Functional finding\Rickets\Autosomal recessive hypophosphataemic rickets\Hereditary hypophosphataemic rickets with hypercalciuria

\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Disorder with defective osteoid mineralisation\Autosomal recessive hypophosphataemic bone disease\Autosomal recessive hypophosphataemic rickets\Hereditary hypophosphataemic rickets with hypercalciuria
\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Disorder with defective osteoid mineralisation\Rickets\Autosomal recessive hypophosphataemic rickets\Hereditary hypophosphataemic rickets with hypercalciuria
\Musculoskeletal finding\Joint finding\Arthropathy\Rickets\Autosomal recessive hypophosphataemic rickets\Hereditary hypophosphataemic rickets with hypercalciuria
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Autosomal recessive hypophosphataemic bone disease\Autosomal recessive hypophosphataemic rickets\Hereditary hypophosphataemic rickets with hypercalciuria
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Rickets\Autosomal recessive hypophosphataemic rickets\Hereditary hypophosphataemic rickets with hypercalciuria
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Disorder with defective osteoid mineralisation\Autosomal recessive hypophosphataemic bone disease\Autosomal recessive hypophosphataemic rickets\Hereditary hypophosphataemic rickets with hypercalciuria
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Disorder with defective osteoid mineralisation\Rickets\Autosomal recessive hypophosphataemic rickets\Hereditary hypophosphataemic rickets with hypercalciuria

\Disease\Disorder of joint region\Arthropathy\Rickets\Autosomal recessive hypophosphataemic rickets\Hereditary hypophosphataemic rickets with hypercalciuria
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary hypophosphataemic rickets with hypercalciuria
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal recessive hypophosphataemic bone disease\Autosomal recessive hypophosphataemic rickets\Hereditary hypophosphataemic rickets with hypercalciuria
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive hypophosphataemic bone disease\Autosomal recessive hypophosphataemic rickets\Hereditary hypophosphataemic rickets with hypercalciuria
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary hypophosphataemic rickets with hypercalciuria
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal recessive hypophosphataemic bone disease\Autosomal recessive hypophosphataemic rickets\Hereditary hypophosphataemic rickets with hypercalciuria
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary hypophosphataemic rickets with hypercalciuria
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Symptomatic disorders of the urinary tract\Hypercalciuria\Hereditary hypophosphataemic rickets with hypercalciuria
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Autosomal recessive hypophosphataemic bone disease\Autosomal recessive hypophosphataemic rickets\Hereditary hypophosphataemic rickets with hypercalciuria
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Rickets\Autosomal recessive hypophosphataemic rickets\Hereditary hypophosphataemic rickets with hypercalciuria
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Disorder with defective osteoid mineralisation\Autosomal recessive hypophosphataemic bone disease\Autosomal recessive hypophosphataemic rickets\Hereditary hypophosphataemic rickets with hypercalciuria
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Disorder with defective osteoid mineralisation\Rickets\Autosomal recessive hypophosphataemic rickets\Hereditary hypophosphataemic rickets with hypercalciuria
\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 hypophosphataemic rickets with hypercalciuria
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Symptomatic disorders of the urinary tract\Hypercalciuria\Hereditary hypophosphataemic rickets with hypercalciuria
\Disease\Metabolic disease\Metabolic bone disease\Disorder with defective osteoid mineralisation\Autosomal recessive hypophosphataemic bone disease\Autosomal recessive hypophosphataemic rickets\Hereditary hypophosphataemic rickets with hypercalciuria
\Disease\Metabolic disease\Metabolic bone disease\Disorder with defective osteoid mineralisation\Rickets\Autosomal recessive hypophosphataemic rickets\Hereditary hypophosphataemic rickets with hypercalciuria
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder of phosphate, calcium and vitamin D metabolism\Phosphorus metabolism disorder\Hypophosphataemia\Autosomal recessive hypophosphataemic bone disease\Autosomal recessive hypophosphataemic rickets\Hereditary hypophosphataemic rickets with hypercalciuria
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder of phosphate, calcium and vitamin D metabolism\Disorder of calcium metabolism\Hypercalciuria\Hereditary hypophosphataemic rickets with hypercalciuria
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder with defective osteoid mineralisation\Autosomal recessive hypophosphataemic bone disease\Autosomal recessive hypophosphataemic rickets\Hereditary hypophosphataemic rickets with hypercalciuria
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder with defective osteoid mineralisation\Rickets\Autosomal recessive hypophosphataemic rickets\Hereditary hypophosphataemic rickets with hypercalciuria

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

Descriptions:

Id Description Lang Type Status Case? Module

3447992010 Hereditary hypophosphatemic rickets with hypercalciuria (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3447993017 Hereditary hypophosphatemic rickets with hypercalciuria en Synonym Active Case insensitive SNOMED CT core

3447994011 Hereditary hypophosphataemic rickets with hypercalciuria en Synonym Active Case insensitive SNOMED CT core

3447995012 HHRH - hereditary hypophosphatemic rickets with hypercalciuria en Synonym Active Case sensitive SNOMED CT core

3447996013 HHRH - hereditary hypophosphataemic rickets with hypercalciuria en Synonym Active Case sensitive SNOMED CT core

3447997016 A hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia. Caused by homozygous or compound heterozygous mutations in the SLC34A3 gene encoding a sodium-dependent phosphate transporter (NaPi-IIc/NPT2c). Transmission is autosomal recessive. en Definition Active Case sensitive SNOMED CT core

3447998014 A hereditary renal phosphate-wasting disorder characterised by hypophosphataemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia. Caused by homozygous or compound heterozygous mutations in the SLC34A3 gene encoding a sodium-dependent phosphate transporter (NaPi-IIc/NPT2c). Transmission is autosomal recessive. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary hypophosphataemic rickets with hypercalciuria	Finding site	Structure of epiphyseal plate	true	Inferred relationship	Some	4
Hereditary hypophosphataemic rickets with hypercalciuria	Interprets	Physiologic mineralisation of bone	true	Inferred relationship	Some	3
Hereditary hypophosphataemic rickets with hypercalciuria	Has interpretation	Deficient	true	Inferred relationship	Some	3
Hereditary hypophosphataemic rickets with hypercalciuria	Is a	Hypercalciuria	true	Inferred relationship	Some
Hereditary hypophosphataemic rickets with hypercalciuria	Is a	Hereditary disorder of the urinary system	true	Inferred relationship	Some
Hereditary hypophosphataemic rickets with hypercalciuria	Is a	Autosomal recessive hypophosphataemic rickets	true	Inferred relationship	Some
Hereditary hypophosphataemic rickets with hypercalciuria	Finding site	Osteoid tissue	true	Inferred relationship	Some	1
Hereditary hypophosphataemic rickets with hypercalciuria	Finding site	Urinary system structure	true	Inferred relationship	Some	2

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
3447992010	Hereditary hypophosphatemic rickets with hypercalciuria (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3447993017	Hereditary hypophosphatemic rickets with hypercalciuria	en	Synonym	Active	Case insensitive	SNOMED CT core
3447994011	Hereditary hypophosphataemic rickets with hypercalciuria	en	Synonym	Active	Case insensitive	SNOMED CT core
3447995012	HHRH - hereditary hypophosphatemic rickets with hypercalciuria	en	Synonym	Active	Case sensitive	SNOMED CT core
3447996013	HHRH - hereditary hypophosphataemic rickets with hypercalciuria	en	Synonym	Active	Case sensitive	SNOMED CT core
3447997016	A hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia. Caused by homozygous or compound heterozygous mutations in the SLC34A3 gene encoding a sodium-dependent phosphate transporter (NaPi-IIc/NPT2c). Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core
3447998014	A hereditary renal phosphate-wasting disorder characterised by hypophosphataemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia. Caused by homozygous or compound heterozygous mutations in the SLC34A3 gene encoding a sodium-dependent phosphate transporter (NaPi-IIc/NPT2c). Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core