237889002: Autosomal dominant hypophosphatemic rickets (disorder)

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

\Functional finding\Rickets\Autosomal dominant hypophosphatemic rickets

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

\Disease\Disorder of joint region\Arthropathy (disorder)\Rickets\Autosomal dominant hypophosphatemic rickets
\Disease\Disorder of joint region\Arthropathy (disorder)\Arthropathy associated with another disorder\Autosomal dominant hypophosphatemic rickets
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphatemic rickets
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphatemic rickets
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphatemic rickets
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphatemic rickets
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphatemic rickets
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Rickets\Autosomal dominant hypophosphatemic rickets
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Arthropathy associated with another disorder\Autosomal dominant hypophosphatemic rickets
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphatemic rickets
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphatemic rickets
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphatemic rickets
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Disorder with defective osteoid mineralization\Rickets\Autosomal dominant hypophosphatemic rickets
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphatemic rickets
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphatemic rickets
\Disease\Metabolic disease\Metabolic bone disease\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphatemic rickets
\Disease\Metabolic disease\Metabolic bone disease\Disorder with defective osteoid mineralization\Rickets\Autosomal dominant hypophosphatemic rickets
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder of phosphate, calcium and vitamin D metabolism\Disorder of phosphorus metabolism\Hypophosphatemia\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphatemic rickets
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder with defective osteoid mineralization\Rickets\Autosomal dominant hypophosphatemic rickets
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphatemic rickets
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphatemic rickets
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphatemic rickets
\Disease\Developmental disorder\Developmental hereditary disorder\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphatemic rickets
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphatemic rickets
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphatemic rickets

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
356513017	Autosomal dominant hypophosphatemic rickets	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356514011	Autosomal dominant hypophosphataemic rickets	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626683012	Autosomal dominant hypophosphatemic rickets (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3688291000052118	autosomalt dominant hypofosfatemisk rakit	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)