726080006: Autosomal recessive hypophosphatemic rickets (disorder)

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

\Functional finding\Rickets\Autosomal recessive hypophosphatemic rickets (disorder)

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

\Disease\Disorder of joint region\Arthropathy (disorder)\Rickets\Autosomal recessive hypophosphatemic rickets (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal recessive hypophosphatemic bone disease\Autosomal recessive hypophosphatemic rickets (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive hypophosphatemic bone disease\Autosomal recessive hypophosphatemic rickets (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal recessive hypophosphatemic bone disease\Autosomal recessive hypophosphatemic rickets (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Autosomal recessive hypophosphatemic bone disease\Autosomal recessive hypophosphatemic rickets (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Rickets\Autosomal recessive hypophosphatemic rickets (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\Autosomal recessive hypophosphatemic rickets (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\Autosomal recessive hypophosphatemic rickets (disorder)
\Disease\Metabolic disease\Metabolic bone disease\Disorder with defective osteoid mineralization\Autosomal recessive hypophosphatemic bone disease\Autosomal recessive hypophosphatemic rickets (disorder)
\Disease\Metabolic disease\Metabolic bone disease\Disorder with defective osteoid mineralization\Rickets\Autosomal recessive hypophosphatemic rickets (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\Autosomal recessive hypophosphatemic rickets (disorder)
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder with defective osteoid mineralization\Autosomal recessive hypophosphatemic bone disease\Autosomal recessive hypophosphatemic rickets (disorder)
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder with defective osteoid mineralization\Rickets\Autosomal recessive hypophosphatemic rickets (disorder)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive hypophosphatemic rickets (disorder)	Is a	Rickets	true	Inferred relationship	Some
Autosomal recessive hypophosphatemic rickets (disorder)	Is a	Autosomal recessive hypophosphatemic bone disease	true	Inferred relationship	Some
Autosomal recessive hypophosphatemic rickets (disorder)	Finding site	Osteoid tissue	true	Inferred relationship	Some	1
Autosomal recessive hypophosphatemic rickets (disorder)	Finding site	Structure of epiphyseal plate (body structure)	true	Inferred relationship	Some	3
Autosomal recessive hypophosphatemic rickets (disorder)	Interprets	Physiologic mineralization of bone	true	Inferred relationship	Some	2
Autosomal recessive hypophosphatemic rickets (disorder)	Has interpretation	Deficient	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal recessive hypophosphatemic vitamin D refractory rickets	Is a	True	Autosomal recessive hypophosphatemic rickets (disorder)	Inferred relationship	Some
Hereditary hypophosphatemic rickets with hypercalciuria (disorder)	Is a	True	Autosomal recessive hypophosphatemic rickets (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3447970011	Autosomal recessive hypophosphatemic rickets (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3447971010	Autosomal recessive hypophosphatemic rickets	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3447972015	Autosomal recessive hypophosphataemic rickets	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
873251000172118	ARHR - autosomal recessive hypophosphatemic rickets	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1009761000172118	rachitisme hypophosphatémique autosomique récessif	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module