237889002: Autosomal dominant hypophosphatemic rickets (disorder)

SNOMED CT Concept\Clinical finding\...

\Functional finding\Rickets\Autosomal dominant hypophosphatemic rickets

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

\Disease\Disorder of joint region\Arthropathy\Rickets\Autosomal dominant hypophosphatemic rickets
\Disease\Disorder of joint region\Arthropathy\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 hypophosphatemic bone disease\Autosomal dominant hypophosphatemic rickets
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal dominant hypophosphatemic bone disease\Autosomal dominant hypophosphatemic rickets
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant hypophosphatemic bone disease\Autosomal dominant hypophosphatemic rickets
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant hypophosphatemic bone disease\Autosomal dominant hypophosphatemic rickets
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Autosomal dominant hypophosphatemic bone disease\Autosomal dominant hypophosphatemic rickets
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Rickets\Autosomal dominant hypophosphatemic rickets
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy\Arthropathy associated with another disorder\Autosomal dominant hypophosphatemic rickets
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with defective mineralization\Autosomal dominant hypophosphatemic bone disease\Autosomal dominant hypophosphatemic rickets
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Lesion of bone\Autosomal dominant hypophosphatemic bone disease\Autosomal dominant hypophosphatemic rickets
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization\Autosomal dominant hypophosphatemic bone disease\Autosomal dominant hypophosphatemic rickets
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Autosomal dominant hypophosphatemic bone disease\Autosomal dominant hypophosphatemic rickets
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\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\Congenital skeletal dysplasia\Dysplasia with defective mineralization\Autosomal dominant hypophosphatemic 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 hypophosphatemic bone disease\Autosomal dominant hypophosphatemic rickets
\Disease\Metabolic disease\Metabolic bone disease\Autosomal dominant hypophosphatemic 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 hypophosphatemic 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\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with defective mineralization\Autosomal dominant hypophosphatemic bone disease\Autosomal dominant hypophosphatemic rickets
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization\Autosomal dominant hypophosphatemic bone disease\Autosomal dominant hypophosphatemic rickets
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization\Autosomal dominant hypophosphatemic bone disease\Autosomal dominant hypophosphatemic rickets
\Disease\Developmental disorder\Developmental hereditary disorder\Autosomal dominant hypophosphatemic bone disease\Autosomal dominant hypophosphatemic rickets
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with defective mineralization\Autosomal dominant hypophosphatemic 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 hypophosphatemic bone disease\Autosomal dominant hypophosphatemic rickets

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

Descriptions:

Id Description Lang Type Status Case? Module

356513017 Autosomal dominant hypophosphatemic rickets en Synonym Active Entire term case insensitive SNOMED CT core module

356514011 Autosomal dominant hypophosphataemic rickets en Synonym Active Entire term case insensitive SNOMED CT core module

626683012 Autosomal dominant hypophosphatemic rickets (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

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	Existential restriction modifier
Autosomal dominant hypophosphatemic rickets	Finding site	Cartilaginous tissue structure	false	Inferred relationship	Existential restriction modifier
Autosomal dominant hypophosphatemic rickets	Finding site	Structure of osteoid tissue	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant hypophosphatemic rickets	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant hypophosphatemic rickets	Finding site	Kidney structure	false	Inferred relationship	Existential restriction modifier
Autosomal dominant hypophosphatemic rickets	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	1
Autosomal dominant hypophosphatemic rickets	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Autosomal dominant hypophosphatemic rickets	Is a	Autosomal dominant hypophosphatemic bone disease	true	Inferred relationship	Existential restriction modifier
Autosomal dominant hypophosphatemic rickets	Is a	Congenital anomaly of cartilage	false	Inferred relationship	Existential restriction modifier
Autosomal dominant hypophosphatemic rickets	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Autosomal dominant hypophosphatemic rickets	Is a	Rickets	true	Inferred relationship	Existential restriction modifier
Autosomal dominant hypophosphatemic rickets	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Autosomal dominant hypophosphatemic rickets	Finding site	Structure of osteoid tissue	false	Inferred relationship	Existential restriction modifier	1
Autosomal dominant hypophosphatemic rickets	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Autosomal dominant hypophosphatemic rickets	Due to	Specific renal tubule transport defect	false	Inferred relationship	Existential restriction modifier	2
Autosomal dominant hypophosphatemic rickets	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Autosomal dominant hypophosphatemic rickets	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Autosomal dominant hypophosphatemic rickets	Finding site	Structure of osteoid tissue	false	Inferred relationship	Existential restriction modifier	2
Autosomal dominant hypophosphatemic rickets	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant hypophosphatemic rickets	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Autosomal dominant hypophosphatemic rickets	Associated morphology	Impaired mineralization	false	Inferred relationship	Existential restriction modifier	3
Autosomal dominant hypophosphatemic rickets	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Autosomal dominant hypophosphatemic rickets	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	3
Autosomal dominant hypophosphatemic rickets	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	3
Autosomal dominant hypophosphatemic rickets	Associated morphology	Impaired mineralization	true	Inferred relationship	Existential restriction modifier	2
Autosomal dominant hypophosphatemic rickets	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	2
Autosomal dominant hypophosphatemic rickets	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Autosomal dominant hypophosphatemic rickets	Due to	Specific renal tubule transport defect	true	Inferred relationship	Existential restriction modifier	3
Autosomal dominant hypophosphatemic rickets	Is a	Arthropathy associated with another disorder	true	Inferred relationship	Existential restriction modifier
Autosomal dominant hypophosphatemic rickets	Finding site	Structure of epiphyseal plate	true	Inferred relationship	Existential restriction modifier	5
Autosomal dominant hypophosphatemic rickets	Interprets	Physiologic mineralization of bone, function	true	Inferred relationship	Existential restriction modifier	4
Autosomal dominant hypophosphatemic rickets	Has interpretation	Deficient	true	Inferred relationship	Existential restriction modifier	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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