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

SNOMED CT Concept\Clinical finding\...

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

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

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

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

Descriptions:

Id Description Lang Type Status Case? Module

150001012 Autosomal recessive hypophosphatemic vitamin D refractory rickets en Synonym Active Initial character case insensitive SNOMED CT core

509028010 Autosomal recessive hypophosphataemic vitamin D refractory rickets en Synonym Active Initial character case insensitive SNOMED CT core

833624016 Autosomal recessive hypophosphatemic vitamin D refractory rickets (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive hypophosphataemic vitamin D refractory rickets	Finding site	Structure of epiphyseal plate	true	Inferred relationship	Some	3
Autosomal recessive hypophosphataemic vitamin D refractory rickets	Interprets	Physiologic mineralisation of bone	true	Inferred relationship	Some	2
Autosomal recessive hypophosphataemic vitamin D refractory rickets	Has interpretation	Deficient	true	Inferred relationship	Some	2
Autosomal recessive hypophosphataemic vitamin D refractory rickets	Is a	Rickets	false	Inferred relationship	Some
Autosomal recessive hypophosphataemic vitamin D refractory rickets	Is a	Autosomal recessive hypophosphataemic bone disease	false	Inferred relationship	Some
Autosomal recessive hypophosphataemic vitamin D refractory rickets	Is a	Familial x-linked hypophosphataemic vitamin D refractory rickets	false	Inferred relationship	Some
Autosomal recessive hypophosphataemic vitamin D refractory rickets	Is a	Autosomal recessive hypophosphataemic rickets	true	Inferred relationship	Some
Autosomal recessive hypophosphataemic vitamin D refractory rickets	Finding site	Kidney structure	false	Inferred relationship	Some
Autosomal recessive hypophosphataemic vitamin D refractory rickets	Occurrence	Congenital	false	Inferred relationship	Some
Autosomal recessive hypophosphataemic vitamin D refractory rickets	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Autosomal recessive hypophosphataemic vitamin D refractory rickets	Finding site	Cartilaginous tissue structure	false	Inferred relationship	Some
Autosomal recessive hypophosphataemic vitamin D refractory rickets	Finding site	Osteoid tissue	true	Inferred relationship	Some	1
Autosomal recessive hypophosphataemic vitamin D refractory rickets	Finding site	Skeletal system structure	false	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

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
150001012	Autosomal recessive hypophosphatemic vitamin D refractory rickets	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
509028010	Autosomal recessive hypophosphataemic vitamin D refractory rickets	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
833624016	Autosomal recessive hypophosphatemic vitamin D refractory rickets (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core