726081005: Hereditary hypophosphatemic rickets with hypercalciuria (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hypercalciuria (disorder)\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of urinary system (disorder)\Hypercalciuria (disorder)\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hypercalciuria (disorder)\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hypercalciuria (disorder)\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)

\Urine finding\Finding of urine substance level\...

\Urine substance level above reference range (finding)\Urine calcium above reference range (finding)\Hypercalciuria (disorder)\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)

\Urine electrolyte levels - finding\Urine electrolytes outside reference range (finding)\Urine calcium outside reference range\Urine calcium above reference range (finding)\Hypercalciuria (disorder)\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)

\Procedure related finding\Evaluation finding\Measurement finding\...

\Finding of substance level (finding)\Finding of urine substance level\Urine substance level above reference range (finding)\Urine calcium above reference range (finding)\Hypercalciuria (disorder)\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Finding of substance level (finding)\Finding of urine substance level\Urine electrolyte levels - finding\Urine electrolytes outside reference range (finding)\Urine calcium outside reference range\Urine calcium above reference range (finding)\Hypercalciuria (disorder)\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Finding of substance level (finding)\Finding of electrolyte levels (finding)\Urine electrolyte levels - finding\Urine electrolytes outside reference range (finding)\Urine calcium outside reference range\Urine calcium above reference range (finding)\Hypercalciuria (disorder)\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Finding of substance level (finding)\Finding of electrolyte levels (finding)\Electrolytes outside reference range\Urine electrolytes outside reference range (finding)\Urine calcium outside reference range\Urine calcium above reference range (finding)\Hypercalciuria (disorder)\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)

\Measurement finding outside reference range\Measurement finding above reference range\Urine substance level above reference range (finding)\Urine calcium above reference range (finding)\Hypercalciuria (disorder)\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Measurement finding outside reference range\Electrolytes outside reference range\Urine electrolytes outside reference range (finding)\Urine calcium outside reference range\Urine calcium above reference range (finding)\Hypercalciuria (disorder)\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)

\Functional finding\Rickets\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)

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

\Disease\Disorder of joint region\Arthropathy (disorder)\Rickets\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal recessive hypophosphatemic bone disease\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive hypophosphatemic bone disease\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal recessive hypophosphatemic bone disease\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hypercalciuria (disorder)\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Autosomal recessive hypophosphatemic bone disease\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Rickets\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Disorder with defective osteoid mineralization\Autosomal recessive hypophosphatemic bone disease\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Disorder with defective osteoid mineralization\Rickets\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hypercalciuria (disorder)\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\Metabolic disease\Metabolic bone disease\Disorder with defective osteoid mineralization\Autosomal recessive hypophosphatemic bone disease\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\Metabolic disease\Metabolic bone disease\Disorder with defective osteoid mineralization\Rickets\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder of phosphate, calcium and vitamin D metabolism\Disorder of phosphorus metabolism\Hypophosphatemia\Autosomal recessive hypophosphatemic bone disease\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder of phosphate, calcium and vitamin D metabolism\Disorder of calcium metabolism\Hypercalciuria (disorder)\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder with defective osteoid mineralization\Autosomal recessive hypophosphatemic bone disease\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder with defective osteoid mineralization\Rickets\Hereditary hypophosphatemic rickets with hypercalciuria (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core

3447993017 Hereditary hypophosphatemic rickets with hypercalciuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3447994011 Hereditary hypophosphataemic rickets with hypercalciuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3447995012 HHRH - hereditary hypophosphatemic rickets with hypercalciuria en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3447996013 HHRH - hereditary hypophosphataemic rickets with hypercalciuria en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary hypophosphatemic rickets with hypercalciuria (disorder)	Is a	Hypercalciuria (disorder)	true	Inferred relationship	Some
Hereditary hypophosphatemic rickets with hypercalciuria (disorder)	Is a	Hereditary disorder of the urinary system	true	Inferred relationship	Some
Hereditary hypophosphatemic rickets with hypercalciuria (disorder)	Is a	Autosomal recessive hypophosphatemic rickets	false	Inferred relationship	Some
Hereditary hypophosphatemic rickets with hypercalciuria (disorder)	Finding site	Osteoid tissue	true	Inferred relationship	Some	1
Hereditary hypophosphatemic rickets with hypercalciuria (disorder)	Finding site	Urinary system structure (body structure)	true	Inferred relationship	Some	2
Hereditary hypophosphatemic rickets with hypercalciuria (disorder)	Finding site	Structure of epiphyseal plate (body structure)	true	Inferred relationship	Some	4
Hereditary hypophosphatemic rickets with hypercalciuria (disorder)	Interprets	Physiologic mineralization of bone	true	Inferred relationship	Some	3
Hereditary hypophosphatemic rickets with hypercalciuria (disorder)	Has interpretation	Deficient	true	Inferred relationship	Some	3
Hereditary hypophosphatemic rickets with hypercalciuria (disorder)	Is a	Autosomal recessive hypophosphatemic bone disease	true	Inferred relationship	Some
Hereditary hypophosphatemic rickets with hypercalciuria (disorder)	Is a	Rickets	true	Inferred relationship	Some
Hereditary hypophosphatemic rickets with hypercalciuria (disorder)	Interprets	Calcium measurement, urine	true	Inferred relationship	Some	5
Hereditary hypophosphatemic rickets with hypercalciuria (disorder)	Has interpretation	Above reference range	true	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3447992010	Hereditary hypophosphatemic rickets with hypercalciuria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3447993017	Hereditary hypophosphatemic rickets with hypercalciuria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3447994011	Hereditary hypophosphataemic rickets with hypercalciuria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3447995012	HHRH - hereditary hypophosphatemic rickets with hypercalciuria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3447996013	HHRH - hereditary hypophosphataemic rickets with hypercalciuria	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core