237891005: Autosomal recessive hypophosphatemic bone disease (disorder)

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

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

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

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 bone disease	Is a	Familial x-linked hypophosphatemic vitamin D refractory rickets	false	Inferred relationship	Some
Autosomal recessive hypophosphatemic bone disease	Finding site	Cartilaginous tissue structure	false	Inferred relationship	Some
Autosomal recessive hypophosphatemic bone disease	Finding site	Osteoid tissue	true	Inferred relationship	Some	1
Autosomal recessive hypophosphatemic bone disease	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Autosomal recessive hypophosphatemic bone disease	Finding site	Kidney structure	false	Inferred relationship	Some
Autosomal recessive hypophosphatemic bone disease	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Autosomal recessive hypophosphatemic bone disease	Occurrence	Congenital	false	Inferred relationship	Some
Autosomal recessive hypophosphatemic bone disease	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Some
Autosomal recessive hypophosphatemic bone disease	Is a	Disorder with defective osteoid mineralization	true	Inferred relationship	Some
Autosomal recessive hypophosphatemic bone disease	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Autosomal recessive hypophosphatemic bone disease	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive hypophosphatemic bone disease	Is a	Hypophosphatemia	true	Inferred relationship	Some
Autosomal recessive hypophosphatemic bone disease	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal recessive hypophosphatemic vitamin D refractory rickets	Is a	True	Autosomal recessive hypophosphatemic bone disease	Inferred relationship	Some
rachitisme hypophosphatémique autosomique récessif	Is a	False	Autosomal recessive hypophosphatemic bone disease	Inferred relationship	Some
A rare hereditary disorder of renal phosphate wasting 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.	Is a	True	Autosomal recessive hypophosphatemic bone disease	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
356518014	Autosomal recessive hypophosphatemic bone disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356521011	Autosomal recessive hypophosphataemic bone disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626685017	Autosomal recessive hypophosphatemic bone disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5822631000241114	maladie osseuse hypophosphatémique autosomique récessive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5822641000241116	ostéopathie hypophosphatémique autosomique récessive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module