726080006: Autosomal recessive hypophosphatemic rickets (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3447970011 Autosomal recessive hypophosphatemic rickets (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3447971010 Autosomal recessive hypophosphatemic rickets en Synonym Active Case insensitive SNOMED CT core

3447972015 Autosomal recessive hypophosphataemic rickets en Synonym Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive hypophosphataemic rickets	Finding site	Structure of epiphyseal plate	true	Inferred relationship	Some	3
Autosomal recessive hypophosphataemic rickets	Interprets	Physiologic mineralisation of bone	true	Inferred relationship	Some	2
Autosomal recessive hypophosphataemic rickets	Has interpretation	Deficient	true	Inferred relationship	Some	2
Autosomal recessive hypophosphataemic rickets	Is a	Rickets	true	Inferred relationship	Some
Autosomal recessive hypophosphataemic rickets	Is a	Autosomal recessive hypophosphataemic bone disease	true	Inferred relationship	Some
Autosomal recessive hypophosphataemic rickets	Finding site	Osteoid tissue	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal recessive hypophosphataemic vitamin D refractory rickets	Is a	True	Autosomal recessive hypophosphataemic rickets	Inferred relationship	Some
Hereditary hypophosphataemic rickets with hypercalciuria	Is a	True	Autosomal recessive hypophosphataemic rickets	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
3447970011	Autosomal recessive hypophosphatemic rickets (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3447971010	Autosomal recessive hypophosphatemic rickets	en	Synonym	Active	Case insensitive	SNOMED CT core
3447972015	Autosomal recessive hypophosphataemic rickets	en	Synonym	Active	Case insensitive	SNOMED CT core