9723006: Hyperphosphatasemia with bone disease (disorder)

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

\Procedure related finding\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Hyperphosphatasemia with bone disease
\Procedure related finding\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Hyperphosphatasemia with bone disease

\Musculoskeletal finding\Bone finding\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Hyperphosphatasemia with bone disease
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Hyperphosphatasemia with bone disease
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Dysplasia with increased bone density (disorder)\Hyperphosphatasemia with bone disease
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Hypertrophy of bone\Hyperphosphatasemia with bone disease
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Metabolic bone disease\Hyperphosphatasemia with bone disease
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Hyperphosphatasemia with 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\Hyperphosphatasemia with bone disease
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density (disorder)\Hyperphosphatasemia with bone disease
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Hypertrophy of bone\Hyperphosphatasemia with bone disease
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Hyperphosphatasemia with bone disease
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\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\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Hyperphosphatasemia with 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\Hyperphosphatasemia with bone disease
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density (disorder)\Hyperphosphatasemia with bone disease
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Hypertrophy of bone\Hyperphosphatasemia with bone disease
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Hyperphosphatasemia with bone disease
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\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 (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\Hyperphosphatasemia with bone disease
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Hyperphosphatasemia with bone disease
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Hyperphosphatasemia with bone disease
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density (disorder)\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 (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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	Some
Hyperphosphatasemia with bone disease	Is a	Dysplasia with increased bone density (disorder)	true	Inferred relationship	Some
Hyperphosphatasemia with bone disease	Is a	Disorder of bone (disorder)	false	Inferred relationship	Some
Hyperphosphatasemia with bone disease	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Hyperphosphatasemia with bone disease	Associated morphology	Hypertrophy of bone	false	Inferred relationship	Some	1
Hyperphosphatasemia with bone disease	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Hyperphosphatasemia with bone disease	Finding site	Bone structure	false	Inferred relationship	Some	1
Hyperphosphatasemia with bone disease	Occurrence	Congenital	false	Inferred relationship	Some
Hyperphosphatasemia with bone disease	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Hyperphosphatasemia with bone disease	Is a	Metabolic bone disease	true	Inferred relationship	Some
Hyperphosphatasemia with bone disease	Finding site	Bone structure	false	Inferred relationship	Some	2
Hyperphosphatasemia with bone disease	Finding site	Bone structure	false	Inferred relationship	Some	2
Hyperphosphatasemia with bone disease	Finding site	Bone structure	false	Inferred relationship	Some	2
Hyperphosphatasemia with bone disease	Finding site	Bone structure	false	Inferred relationship	Some	1
Hyperphosphatasemia with bone disease	Finding site	Bone structure	false	Inferred relationship	Some	2
Hyperphosphatasemia with bone disease	Finding site	Bone structure	false	Inferred relationship	Some	1
Hyperphosphatasemia with bone disease	Is a	Hypertrophy of bone	true	Inferred relationship	Some
Hyperphosphatasemia with bone disease	Finding site	Bone structure	false	Inferred relationship	Some	2
Hyperphosphatasemia with bone disease	Finding site	Bone structure	false	Inferred relationship	Some	1
Hyperphosphatasemia with bone disease	Finding site	Bone structure	false	Inferred relationship	Some	2
Hyperphosphatasemia with bone disease	Finding site	Bone structure	false	Inferred relationship	Some	1
Hyperphosphatasemia with bone disease	Finding site	Bone structure	false	Inferred relationship	Some	2
Hyperphosphatasemia with bone disease	Finding site	Bone structure	false	Inferred relationship	Some	1
Hyperphosphatasemia with bone disease	Finding site	Bone structure	true	Inferred relationship	Some	1
Hyperphosphatasemia with bone disease	Finding site	Bone structure	false	Inferred relationship	Some	2
Hyperphosphatasemia with bone disease	Occurrence	Congenital	false	Inferred relationship	Some	3
Hyperphosphatasemia with bone disease	Finding site	Bone structure	false	Inferred relationship	Some	3
Hyperphosphatasemia with bone disease	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Hyperphosphatasemia with bone disease	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Hyperphosphatasemia with bone disease	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Hyperphosphatasemia with bone disease	Occurrence	Congenital	true	Inferred relationship	Some	1
Hyperphosphatasemia with bone disease	Occurrence	Congenital	true	Inferred relationship	Some	2
Hyperphosphatasemia with bone disease	Associated morphology	Hypertrophy	true	Inferred relationship	Some	1
Hyperphosphatasemia with bone disease	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Hyperphosphatasemia with bone disease	Interprets	Bone density scan	true	Inferred relationship	Some	3
Hyperphosphatasemia with bone disease	Has interpretation	Above reference range	true	Inferred relationship	Some	3
Hyperphosphatasemia with bone disease	Finding site	Skeletal system structure	true	Inferred relationship	Some	2
Hyperphosphatasemia with bone disease	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some

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

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 (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
16994017	Chronic congenital idiopathic hyperphosphatasemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
16995016	Familial idiopathic hyperphosphatasemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
16996015	Familial osteoectasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
16997012	Hyperostosis corticalis deformans juvenilis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
16998019	Juvenile Paget disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
16999010	Osteochalasia desmalis familiaris	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
512746019	Osteoectasia with hyperphosphatasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
512747011	Chronic congenital idiopathic hyperphosphatasaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
512748018	Hyperphosphatasaemia with bone disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
512749014	Familial idiopathic hyperphosphatasaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
841761014	Hyperphosphatasemia with bone disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7676401000172116	maladie de Paget juvénile	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7676411000172118	hyperphosphatasémie associée à une maladie osseuse	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
9921851000172118	ostéo-ectasie familiale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5551901000172113	hyperfosfatasemie met botziekte	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5551911000172111	chronische idiopathische hyperfosfatasemie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5551921000172118	juveniele ziekte van Paget	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5551931000172115	hyperfosfatasemie met botaandoening	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)