237889002: Autosomal dominant hypophosphatemic rickets (disorder)

SNOMED CT Concept\Clinical finding\...

\Functional finding\Rickets\Autosomal dominant hypophosphataemic rickets

\Musculoskeletal finding\Bone finding\Disorder of bone\Lesion of bone\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphataemic rickets
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with defective mineralisation\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphataemic rickets
\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphataemic rickets
\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Disorder with defective osteoid mineralisation\Rickets\Autosomal dominant hypophosphataemic rickets
\Musculoskeletal finding\Joint finding\Arthropathy\Rickets\Autosomal dominant hypophosphataemic rickets
\Musculoskeletal finding\Joint finding\Arthropathy\Arthropathy associated with another disorder\Autosomal dominant hypophosphataemic rickets
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphataemic rickets
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Rickets\Autosomal dominant hypophosphataemic rickets
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Arthropathy associated with another disorder\Autosomal dominant hypophosphataemic rickets
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with defective mineralisation\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphataemic rickets
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Lesion of bone\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphataemic rickets
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with defective mineralisation\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphataemic rickets
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphataemic rickets
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Disorder with defective osteoid mineralisation\Rickets\Autosomal dominant hypophosphataemic rickets
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with defective mineralisation\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphataemic rickets
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralisation\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphataemic rickets

\Disease\Disorder of joint region\Arthropathy\Rickets\Autosomal dominant hypophosphataemic rickets
\Disease\Disorder of joint region\Arthropathy\Arthropathy associated with another disorder\Autosomal dominant hypophosphataemic rickets
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphataemic rickets
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphataemic rickets
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphataemic rickets
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphataemic rickets
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphataemic rickets
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Rickets\Autosomal dominant hypophosphataemic rickets
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Arthropathy associated with another disorder\Autosomal dominant hypophosphataemic rickets
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with defective mineralisation\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphataemic rickets
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Lesion of bone\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphataemic rickets
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with defective mineralisation\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphataemic rickets
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant 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 dominant hypophosphataemic rickets
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with defective mineralisation\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphataemic rickets
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralisation\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphataemic rickets
\Disease\Metabolic disease\Metabolic bone disease\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphataemic rickets
\Disease\Metabolic disease\Metabolic bone disease\Disorder with defective osteoid mineralisation\Rickets\Autosomal dominant hypophosphataemic rickets
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder of phosphate, calcium and vitamin D metabolism\Phosphorus metabolism disorder\Hypophosphataemia\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphataemic rickets
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder with defective osteoid mineralisation\Rickets\Autosomal dominant hypophosphataemic rickets
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with defective mineralisation\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphataemic rickets
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralisation\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphataemic rickets
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with defective mineralisation\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphataemic rickets
\Disease\Developmental disorder\Developmental hereditary disorder\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphataemic rickets
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with defective mineralisation\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphataemic rickets
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralisation\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphataemic rickets

Status: current, Defined. Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

356513017 Autosomal dominant hypophosphatemic rickets en Synonym Active Case insensitive SNOMED CT core

356514011 Autosomal dominant hypophosphataemic rickets en Synonym Active Case insensitive SNOMED CT core

626683012 Autosomal dominant hypophosphatemic rickets (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant hypophosphataemic rickets	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal dominant hypophosphataemic rickets	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal dominant hypophosphataemic rickets	Associated morphology	Impaired mineralisation	false	Inferred relationship	Some	3
Autosomal dominant hypophosphataemic rickets	Occurrence	Congenital	false	Inferred relationship	Some	3
Autosomal dominant hypophosphataemic rickets	Finding site	Bone structure	false	Inferred relationship	Some	3
Autosomal dominant hypophosphataemic rickets	Pathological process	Pathological developmental process	false	Inferred relationship	Some	3
Autosomal dominant hypophosphataemic rickets	Associated morphology	Impaired mineralisation	true	Inferred relationship	Some	2
Autosomal dominant hypophosphataemic rickets	Finding site	Bone structure	true	Inferred relationship	Some	2
Autosomal dominant hypophosphataemic rickets	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Autosomal dominant hypophosphataemic rickets	Due to	Specific renal tubule transport defect	true	Inferred relationship	Some	3
Autosomal dominant hypophosphataemic rickets	Is a	Arthropathy associated with another disorder	true	Inferred relationship	Some
Autosomal dominant hypophosphataemic rickets	Finding site	Structure of epiphyseal plate	true	Inferred relationship	Some	5
Autosomal dominant hypophosphataemic rickets	Interprets	Physiologic mineralisation of bone	true	Inferred relationship	Some	4
Autosomal dominant hypophosphataemic rickets	Has interpretation	Deficient	true	Inferred relationship	Some	4
Autosomal dominant hypophosphataemic rickets	Is a	Autosomal dominant hypophosphataemic bone disease	true	Inferred relationship	Some
Autosomal dominant hypophosphataemic rickets	Is a	Congenital anomaly of cartilage	false	Inferred relationship	Some
Autosomal dominant hypophosphataemic rickets	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Autosomal dominant hypophosphataemic rickets	Is a	Rickets	true	Inferred relationship	Some
Autosomal dominant hypophosphataemic rickets	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Autosomal dominant hypophosphataemic rickets	Finding site	Osteoid tissue	false	Inferred relationship	Some	1
Autosomal dominant hypophosphataemic rickets	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Autosomal dominant hypophosphataemic rickets	Due to	Specific renal tubule transport defect	false	Inferred relationship	Some	2
Autosomal dominant hypophosphataemic rickets	Occurrence	Congenital	true	Inferred relationship	Some	2
Autosomal dominant hypophosphataemic rickets	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Autosomal dominant hypophosphataemic rickets	Finding site	Osteoid tissue	false	Inferred relationship	Some	2
Autosomal dominant hypophosphataemic rickets	Finding site	Cartilaginous tissue structure	false	Inferred relationship	Some
Autosomal dominant hypophosphataemic rickets	Finding site	Osteoid tissue	true	Inferred relationship	Some	1
Autosomal dominant hypophosphataemic rickets	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Autosomal dominant hypophosphataemic rickets	Finding site	Kidney structure	false	Inferred relationship	Some
Autosomal dominant hypophosphataemic rickets	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Autosomal dominant hypophosphataemic rickets	Occurrence	Congenital	false	Inferred relationship	Some
Autosomal dominant hypophosphataemic rickets	Is a	Familial x-linked hypophosphataemic vitamin D refractory rickets	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
356513017	Autosomal dominant hypophosphatemic rickets	en	Synonym	Active	Case insensitive	SNOMED CT core
356514011	Autosomal dominant hypophosphataemic rickets	en	Synonym	Active	Case insensitive	SNOMED CT core
626683012	Autosomal dominant hypophosphatemic rickets (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core