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 hypophosphatemic 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 hypophosphatemic 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 hypophosphatemic 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 hypophosphatemic 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 hypophosphatemic 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 hypophosphatemic 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 hypophosphatemic 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 hypophosphatemic rickets with hypercalciuria

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

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

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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3447992010 Hereditary hypophosphatemic rickets with hypercalciuria (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3447993017 Hereditary hypophosphatemic rickets with hypercalciuria en Synonym Active Entire term case insensitive SNOMED CT core module

3447994011 Hereditary hypophosphataemic rickets with hypercalciuria en Synonym Active Entire term case insensitive SNOMED CT core module

3447995012 HHRH - hereditary hypophosphatemic rickets with hypercalciuria en Synonym Active Entire term case sensitive SNOMED CT core module

3447996013 HHRH - hereditary hypophosphataemic rickets with hypercalciuria en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary hypophosphatemic rickets with hypercalciuria	Is a	Hypercalciuria	true	Inferred relationship	Existential restriction modifier
Hereditary hypophosphatemic rickets with hypercalciuria	Is a	Hereditary disorder of the urinary system	true	Inferred relationship	Existential restriction modifier
Hereditary hypophosphatemic rickets with hypercalciuria	Is a	Autosomal recessive hypophosphatemic rickets	true	Inferred relationship	Existential restriction modifier
Hereditary hypophosphatemic rickets with hypercalciuria	Finding site	Structure of osteoid tissue	true	Inferred relationship	Existential restriction modifier	1
Hereditary hypophosphatemic rickets with hypercalciuria	Finding site	Urinary system structure	true	Inferred relationship	Existential restriction modifier	2
Hereditary hypophosphatemic rickets with hypercalciuria	Finding site	Structure of epiphyseal plate	true	Inferred relationship	Existential restriction modifier	4
Hereditary hypophosphatemic rickets with hypercalciuria	Interprets	Physiologic mineralization of bone, function	true	Inferred relationship	Existential restriction modifier	3
Hereditary hypophosphatemic rickets with hypercalciuria	Has interpretation	Deficient	true	Inferred relationship	Existential restriction modifier	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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