726080006: Autosomal recessive hypophosphatemic rickets (disorder)

SNOMED CT Concept\Clinical finding\...

\Functional finding\Rickets\Autosomal recessive hypophosphatemic rickets

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

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

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

3447970011 Autosomal recessive hypophosphatemic rickets (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3447971010 Autosomal recessive hypophosphatemic rickets en Synonym Active Entire term case insensitive SNOMED CT core module
3447972015 Autosomal recessive hypophosphataemic rickets en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive hypophosphatemic rickets	Is a	Rickets	true	Inferred relationship	Existential restriction modifier
Autosomal recessive hypophosphatemic rickets	Is a	Autosomal recessive hypophosphatemic bone disease	true	Inferred relationship	Existential restriction modifier
Autosomal recessive hypophosphatemic rickets	Finding site	Structure of osteoid tissue	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive hypophosphatemic rickets	Finding site	Structure of epiphyseal plate	true	Inferred relationship	Existential restriction modifier	3
Autosomal recessive hypophosphatemic rickets	Interprets	Physiologic mineralization of bone, function	true	Inferred relationship	Existential restriction modifier	2
Autosomal recessive hypophosphatemic rickets	Has interpretation	Deficient	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal recessive hypophosphatemic vitamin D refractory rickets	Is a	True	Autosomal recessive hypophosphatemic rickets	Inferred relationship	Existential restriction modifier
Hereditary hypophosphatemic rickets with hypercalciuria	Is a	True	Autosomal recessive hypophosphatemic rickets	Inferred relationship	Existential restriction modifier

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	SNOMED CT core module
3447971010	Autosomal recessive hypophosphatemic rickets	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3447972015	Autosomal recessive hypophosphataemic rickets	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module