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237891005: Autosomal recessive hypophosphatemic bone disease (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Disorder with defective osteoid mineralisation\Autosomal recessive hypophosphataemic bone disease
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Autosomal recessive hypophosphataemic bone disease
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Disorder with defective osteoid mineralisation\Autosomal recessive hypophosphataemic bone disease

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal recessive hypophosphataemic bone disease
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive hypophosphataemic bone disease
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal recessive hypophosphataemic bone disease
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Autosomal recessive hypophosphataemic bone disease
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Disorder with defective osteoid mineralisation\Autosomal recessive hypophosphataemic bone disease
\Disease\Metabolic disease\Metabolic bone disease\Disorder with defective osteoid mineralisation\Autosomal recessive hypophosphataemic bone disease
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder of phosphate, calcium and vitamin D metabolism\Phosphorus metabolism disorder\Hypophosphataemia\Autosomal recessive hypophosphataemic bone disease
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder with defective osteoid mineralisation\Autosomal recessive hypophosphataemic bone disease

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

356518014 Autosomal recessive hypophosphatemic bone disease en Synonym Active Case insensitive SNOMED CT core

356521011 Autosomal recessive hypophosphataemic bone disease en Synonym Active Case insensitive SNOMED CT core

626685017 Autosomal recessive hypophosphatemic bone disease (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive hypophosphataemic bone disease	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Autosomal recessive hypophosphataemic bone disease	Is a	Disorder with defective osteoid mineralisation	true	Inferred relationship	Some
Autosomal recessive hypophosphataemic bone disease	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Autosomal recessive hypophosphataemic bone disease	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive hypophosphataemic bone disease	Is a	Hypophosphataemia	true	Inferred relationship	Some
Autosomal recessive hypophosphataemic bone disease	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Autosomal recessive hypophosphataemic bone disease	Finding site	Cartilaginous tissue structure	false	Inferred relationship	Some
Autosomal recessive hypophosphataemic bone disease	Finding site	Osteoid tissue	true	Inferred relationship	Some	1
Autosomal recessive hypophosphataemic bone disease	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Autosomal recessive hypophosphataemic bone disease	Finding site	Kidney structure	false	Inferred relationship	Some
Autosomal recessive hypophosphataemic bone disease	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Autosomal recessive hypophosphataemic bone disease	Occurrence	Congenital	false	Inferred relationship	Some
Autosomal recessive hypophosphataemic bone disease	Is a	Familial x-linked hypophosphataemic vitamin D refractory rickets	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal recessive hypophosphataemic vitamin D refractory rickets	Is a	False	Autosomal recessive hypophosphataemic bone disease	Inferred relationship	Some
Autosomal recessive hypophosphataemic rickets	Is a	True	Autosomal recessive hypophosphataemic bone disease	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
356518014	Autosomal recessive hypophosphatemic bone disease	en	Synonym	Active	Case insensitive	SNOMED CT core
356521011	Autosomal recessive hypophosphataemic bone disease	en	Synonym	Active	Case insensitive	SNOMED CT core
626685017	Autosomal recessive hypophosphatemic bone disease (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core