9723006: Hyperphosphatasemia with bone disease (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density above reference range\Dysplasia with increased bone density\Hyperphosphatasemia with bone disease

\General finding of observation of patient\Procedure related finding\Bone density finding\Bone density above reference range\Dysplasia with increased bone density\Hyperphosphatasemia with bone disease

\Musculoskeletal finding\Bone finding\Bone density finding\Bone density above reference range\Dysplasia with increased bone density\Hyperphosphatasemia with bone disease
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Hyperphosphatasemia with bone disease
\Musculoskeletal finding\Bone finding\Disorder of bone\Dysplasia with increased bone density\Hyperphosphatasemia with bone disease
\Musculoskeletal finding\Bone finding\Disorder of bone\Hypertrophy of bone\Hyperphosphatasemia with bone disease
\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Hyperphosphatasemia with bone disease
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Hyperphosphatasemia with bone disease
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Hyperphosphatasemia with bone disease
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Dysplasia with increased bone density\Hyperphosphatasemia with bone disease
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Hypertrophy of bone\Hyperphosphatasemia with bone disease
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Hyperphosphatasemia with bone disease
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Hyperphosphatasemia with bone disease
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Hyperphosphatasemia with bone disease

\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Hyperphosphatasemia with bone disease
\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\Hyperphosphatasemia with bone disease
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Dysplasia with increased bone density\Hyperphosphatasemia with bone disease
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Hypertrophy of bone\Hyperphosphatasemia with bone disease
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Hyperphosphatasemia with bone disease
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Hyperphosphatasemia with bone disease
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Hyperphosphatasemia with bone disease
\Disease\Metabolic disease\Metabolic bone disease\Hyperphosphatasemia with bone disease
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder of phosphate, calcium and vitamin D metabolism\Hyperphosphatasemia with bone disease
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Hyperphosphatasemia with bone disease
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Hyperphosphatasemia with bone disease
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Hyperphosphatasemia with bone disease
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Hyperphosphatasemia with bone disease
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Hyperphosphatasemia with bone disease

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

16993011 Hyperphosphatasemia with bone disease en Synonym Active Entire term case insensitive SNOMED CT core module

16994017 Chronic congenital idiopathic hyperphosphatasemia en Synonym Active Entire term case insensitive SNOMED CT core module

16995016 Familial idiopathic hyperphosphatasemia en Synonym Active Entire term case insensitive SNOMED CT core module

16996015 Familial osteoectasia en Synonym Active Entire term case insensitive SNOMED CT core module

16997012 Hyperostosis corticalis deformans juvenilis en Synonym Active Entire term case insensitive SNOMED CT core module

16998019 Juvenile Paget disease en Synonym Active Only initial character case insensitive SNOMED CT core module

16999010 Osteochalasia desmalis familiaris en Synonym Active Entire term case insensitive SNOMED CT core module

512746019 Osteoectasia with hyperphosphatasia en Synonym Active Entire term case insensitive SNOMED CT core module

512747011 Chronic congenital idiopathic hyperphosphatasaemia en Synonym Active Entire term case insensitive SNOMED CT core module

512748018 Hyperphosphatasaemia with bone disease en Synonym Active Entire term case insensitive SNOMED CT core module

512749014 Familial idiopathic hyperphosphatasaemia en Synonym Active Entire term case insensitive SNOMED CT core module

841761014 Hyperphosphatasemia with bone disease (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
Hyperphosphatasemia with bone disease	Is a	Disorder of phosphate, calcium and vitamin D metabolism	true	Inferred relationship	Existential restriction modifier
Hyperphosphatasemia with bone disease	Is a	Dysplasia with increased bone density	true	Inferred relationship	Existential restriction modifier
Hyperphosphatasemia with bone disease	Is a	Disorder of bone	false	Inferred relationship	Existential restriction modifier
Hyperphosphatasemia with bone disease	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier	1
Hyperphosphatasemia with bone disease	Associated morphology	Hypertrophy of bone	false	Inferred relationship	Existential restriction modifier	1
Hyperphosphatasemia with bone disease	Associated morphology	Dysplasia	false	Inferred relationship	Existential restriction modifier	1
Hyperphosphatasemia with bone disease	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Hyperphosphatasemia with bone disease	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Hyperphosphatasemia with bone disease	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Hyperphosphatasemia with bone disease	Is a	Metabolic bone disease	true	Inferred relationship	Existential restriction modifier
Hyperphosphatasemia with bone disease	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Hyperphosphatasemia with bone disease	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Hyperphosphatasemia with bone disease	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Hyperphosphatasemia with bone disease	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Hyperphosphatasemia with bone disease	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Hyperphosphatasemia with bone disease	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Hyperphosphatasemia with bone disease	Is a	Hypertrophy of bone	true	Inferred relationship	Existential restriction modifier
Hyperphosphatasemia with bone disease	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Hyperphosphatasemia with bone disease	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Hyperphosphatasemia with bone disease	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Hyperphosphatasemia with bone disease	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Hyperphosphatasemia with bone disease	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Hyperphosphatasemia with bone disease	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Hyperphosphatasemia with bone disease	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Hyperphosphatasemia with bone disease	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Hyperphosphatasemia with bone disease	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Hyperphosphatasemia with bone disease	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	3
Hyperphosphatasemia with bone disease	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	3
Hyperphosphatasemia with bone disease	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Hyperphosphatasemia with bone disease	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Hyperphosphatasemia with bone disease	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Hyperphosphatasemia with bone disease	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Hyperphosphatasemia with bone disease	Associated morphology	Hypertrophy	true	Inferred relationship	Existential restriction modifier	1
Hyperphosphatasemia with bone disease	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	2
Hyperphosphatasemia with bone disease	Interprets	Bone density scan	true	Inferred relationship	Existential restriction modifier	3
Hyperphosphatasemia with bone disease	Has interpretation	Above reference range	true	Inferred relationship	Existential restriction modifier	3
Hyperphosphatasemia with bone disease	Finding site	Skeletal system structure	true	Inferred relationship	Existential restriction modifier	2
Hyperphosphatasemia with bone disease	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Idiopathic hyperphosphatasemia	Is a	False	Hyperphosphatasemia with bone disease	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
16993011	Hyperphosphatasemia with bone disease	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
16994017	Chronic congenital idiopathic hyperphosphatasemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
16995016	Familial idiopathic hyperphosphatasemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
16996015	Familial osteoectasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
16997012	Hyperostosis corticalis deformans juvenilis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
16998019	Juvenile Paget disease	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
16999010	Osteochalasia desmalis familiaris	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
512746019	Osteoectasia with hyperphosphatasia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
512747011	Chronic congenital idiopathic hyperphosphatasaemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
512748018	Hyperphosphatasaemia with bone disease	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
512749014	Familial idiopathic hyperphosphatasaemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
841761014	Hyperphosphatasemia with bone disease (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module