237889002: autosomaal dominante hypofosfatemische rachitis (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Functional finding\Finding of ossification\Rickets\Autosomal dominant hypophosphatemic rickets
• \Musculoskeletal finding\Bone finding\Finding of ossification\Rickets\Autosomal dominant hypophosphatemic rickets
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\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)\Lesion of bone\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 foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Dysplasia with defective mineralization\Autosomal dominant hypophosphataemic bone disease\Autosomal dominant hypophosphatemic rickets
• \Disease\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\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\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)\Lesion of bone\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\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 dysplasia (disorder)\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\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:

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
374481000146118	autosomaal dominante hypofosfatemische rachitis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
374491000146116	autosomaal dominante hypofosfatemische rachitis (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Reference Sets

GB English

US English

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