237890006: Autosomal dominant hypophosphatemic bone disease (disorder)

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

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Lesion of bone\Autosomal dominant hypophosphataemic bone disease
\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
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Metabolic bone disease\Autosomal dominant hypophosphataemic bone disease
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Autosomal dominant hypophosphataemic bone disease
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Autosomal dominant hypophosphataemic bone disease
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Lesion of bone\Autosomal dominant hypophosphataemic bone disease
\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
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Autosomal dominant hypophosphataemic bone disease
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Autosomal dominant hypophosphataemic bone disease
\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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant hypophosphataemic bone disease
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal dominant hypophosphataemic bone disease
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant hypophosphataemic bone disease
\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
\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
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal dominant hypophosphataemic bone disease
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Autosomal dominant hypophosphataemic bone disease
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Autosomal dominant hypophosphataemic bone disease
\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
\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
\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
\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
\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
\Disease\Metabolic disease\Metabolic bone disease\Autosomal dominant hypophosphataemic bone disease
\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
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization\Autosomal dominant hypophosphataemic bone disease
\Disease\Developmental disorder\Developmental hereditary disorder\Autosomal dominant hypophosphataemic bone disease
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with defective mineralization\Autosomal dominant hypophosphataemic bone disease
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with defective mineralization\Autosomal dominant hypophosphataemic bone disease

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

356515012 Autosomal dominant hypophosphataemic bone disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

356517016 Autosomal dominant hypophosphatemic bone disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626684018 Autosomal dominant hypophosphatemic bone disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant hypophosphataemic bone disease	Is a	Familial x-linked hypophosphatemic vitamin D refractory rickets	false	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	Occurrence	Congenital	false	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Autosomal dominant hypophosphataemic bone disease	Finding site	Kidney structure	false	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Autosomal dominant hypophosphataemic bone disease	Finding site	Osteoid tissue	false	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	Finding site	Cartilaginous tissue structure	false	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	Is a	Hypophosphatemia	true	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	Is a	Specific renal tubule transport defect	false	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	Is a	Dysplasia with defective mineralization	true	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	Is a	Hereditary disorder of the urinary system	false	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Autosomal dominant hypophosphataemic bone disease	Finding site	Bone structure	false	Inferred relationship	Some	1
Autosomal dominant hypophosphataemic bone disease	Is a	Metabolic bone disease	true	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Autosomal dominant hypophosphataemic bone disease	Finding site	Bone structure	false	Inferred relationship	Some	1
Autosomal dominant hypophosphataemic bone disease	Due to	Specific renal tubule transport defect	false	Inferred relationship	Some	2
Autosomal dominant hypophosphataemic bone disease	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Autosomal dominant hypophosphataemic bone disease	Finding site	Osteoid tissue	false	Inferred relationship	Some	1
Autosomal dominant hypophosphataemic bone disease	Finding site	Osteoid tissue	true	Inferred relationship	Some	1
Autosomal dominant hypophosphataemic bone disease	Occurrence	Congenital	true	Inferred relationship	Some	2
Autosomal dominant hypophosphataemic bone disease	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Autosomal dominant hypophosphataemic bone disease	Finding site	Osteoid tissue	false	Inferred relationship	Some	2
Autosomal dominant hypophosphataemic bone disease	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal dominant hypophosphataemic bone disease	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal dominant hypophosphataemic bone disease	Finding site	Bone structure	false	Inferred relationship	Some	3
Autosomal dominant hypophosphataemic bone disease	Occurrence	Congenital	false	Inferred relationship	Some	3
Autosomal dominant hypophosphataemic bone disease	Associated morphology	Impaired mineralization	false	Inferred relationship	Some	3
Autosomal dominant hypophosphataemic bone disease	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	3
Autosomal dominant hypophosphataemic bone disease	Associated morphology	Impaired mineralization	true	Inferred relationship	Some	2
Autosomal dominant hypophosphataemic bone disease	Finding site	Bone structure	true	Inferred relationship	Some	2
Autosomal dominant hypophosphataemic bone disease	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Autosomal dominant hypophosphataemic bone disease	Due to	Specific renal tubule transport defect	true	Inferred relationship	Some	3
Autosomal dominant hypophosphataemic bone disease	Is a	Lesion of bone	true	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal dominant hypophosphatemic rickets	Is a	True	Autosomal dominant hypophosphataemic bone disease	Inferred relationship	Some
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis	Is a	True	Autosomal dominant hypophosphataemic bone disease	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
356515012	Autosomal dominant hypophosphataemic bone disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356517016	Autosomal dominant hypophosphatemic bone disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626684018	Autosomal dominant hypophosphatemic bone disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core