90505000: Autosomal recessive hypophosphatemic vitamin D refractory rickets (disorder)

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

\Functional finding\Rickets\Autosomal recessive hypophosphatemic vitamin D refractory rickets

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive hypophosphatemic vitamin D refractory rickets	Is a	Familial x-linked hypophosphatemic vitamin D refractory rickets	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive hypophosphatemic vitamin D refractory rickets	Finding site	Kidney structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive hypophosphatemic vitamin D refractory rickets	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive hypophosphatemic vitamin D refractory rickets	Associated morphology	Dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive hypophosphatemic vitamin D refractory rickets	Finding site	Cartilaginous tissue structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive hypophosphatemic vitamin D refractory rickets	Finding site	Osteoid tissue	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive hypophosphatemic vitamin D refractory rickets	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive hypophosphatemic vitamin D refractory rickets	Is a	Rickets	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive hypophosphatemic vitamin D refractory rickets	Is a	Autosomal recessive hypophosphatemic bone disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive hypophosphatemic vitamin D refractory rickets	Is a	rachitisme hypophosphatémique autosomique récessif	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive hypophosphatemic vitamin D refractory rickets	Finding site	Structure of epiphyseal plate (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal recessive hypophosphatemic vitamin D refractory rickets	Interprets	Physiologic mineralization of bone, function (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Autosomal recessive hypophosphatemic vitamin D refractory rickets	Has interpretation	Deficient	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

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
150001012	Autosomal recessive hypophosphatemic vitamin D refractory rickets	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
509028010	Autosomal recessive hypophosphataemic vitamin D refractory rickets	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
833624016	Autosomal recessive hypophosphatemic vitamin D refractory rickets (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1217080016	Autosomal recessive hypophosphataemic rickets	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1218568019	Autosomal recessive hypophosphatemic rickets	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
150001012	Autosomal recessive hypophosphatemic vitamin D refractory rickets	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
150002017	Autosomal hypophosphatemic bone disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
509028010	Autosomal recessive hypophosphataemic vitamin D refractory rickets	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
509029019	Autosomal hypophosphataemic bone disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
833624016	Autosomal recessive hypophosphatemic vitamin D refractory rickets (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1217080016	Autosomal recessive hypophosphataemic rickets	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1217080016	Autosomal recessive hypophosphataemic rickets	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1218568019	Autosomal recessive hypophosphatemic rickets	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1218568019	Autosomal recessive hypophosphatemic rickets	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3386661001000111	Rachitis, hypophosphatämische, autosomal-rezessive	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4686571000241115	rachitisme hypophosphatémique autosomique récessif résistant à la vitamine D	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4686571000241115	rachitisme hypophosphatémique autosomique récessif résistant à la vitamine D	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3386661001000111	Rachitis, hypophosphatämische, autosomal-rezessive	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module