254104009: Dysplasia with decreased bone density (disorder)

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

\Procedure related finding\Evaluation finding\Imaging finding (finding)\Bone densimetry abnormal\Bone density below reference range\Dysplasia with decreased bone density
\Procedure related finding\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Bone density below reference range\Dysplasia with decreased bone density
\Procedure related finding\Evaluation finding\Measurement finding\Measurement finding outside reference range\Bone densimetry abnormal\Bone density below reference range\Dysplasia with decreased bone density
\Procedure related finding\Bone density finding (finding)\Bone density below reference range\Dysplasia with decreased bone density

\Musculoskeletal finding (finding)\Bone finding\Bone density finding (finding)\Bone density below reference range\Dysplasia with decreased bone density
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with decreased bone density
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with decreased bone density
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dysplasia with decreased bone density	Is a	Skeletal dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysplasia with decreased bone density	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysplasia with decreased bone density	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysplasia with decreased bone density	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysplasia with decreased bone density	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysplasia with decreased bone density	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysplasia with decreased bone density	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysplasia with decreased bone density	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysplasia with decreased bone density	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysplasia with decreased bone density	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysplasia with decreased bone density	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysplasia with decreased bone density	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysplasia with decreased bone density	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysplasia with decreased bone density	Is a	Bone density below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysplasia with decreased bone density	Interprets	Bone density scan	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysplasia with decreased bone density	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysplasia with decreased bone density	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Juvenile idiopathic generalised osteoporosis	Is a	False	Dysplasia with decreased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Bruck syndrome	Is a	True	Dysplasia with decreased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Singleton-Merten syndrome	Is a	True	Dysplasia with decreased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Geroderma osteodysplastica	Is a	True	Dysplasia with decreased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Menkes kinky-hair syndrome	Is a	True	Dysplasia with decreased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta	Is a	False	Dysplasia with decreased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Cole-Carpenter dysplasia (disorder)	Is a	True	Dysplasia with decreased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Spondylo-ocular syndrome	Is a	True	Dysplasia with decreased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Doughnut lesion of calvaria and bone fragility syndrome (disorder)	Is a	True	Dysplasia with decreased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder)	Is a	True	Dysplasia with decreased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Bowed tibia, radial anomaly, osteopenia, fracture syndrome	Is a	False	Dysplasia with decreased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare syndrome characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992.	Is a	True	Dysplasia with decreased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome	Is a	True	Dysplasia with decreased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive cutis laxa type 2B	Is a	True	Dysplasia with decreased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked osteoporosis with fractures	Is a	True	Dysplasia with decreased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked calvarial hyperostosis	Is a	True	Dysplasia with decreased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive cutis laxa type 2A	Is a	True	Dysplasia with decreased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Low density lipoprotein receptor-related protein 5 related primary osteoporosis (disorder)	Is a	True	Dysplasia with decreased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Complex lethal osteochondrodysplasia (disorder)	Is a	True	Dysplasia with decreased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Classical-like Ehlers-Danlos syndrome type 2	Is a	True	Dysplasia with decreased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Ehlers-Danlos and osteogenesis imperfecta syndrome	Is a	True	Dysplasia with decreased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
378263017	Dysplasia with decreased bone density	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
644949010	Dysplasia with decreased bone density (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
378263017	Dysplasia with decreased bone density	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
378263017	Dysplasia with decreased bone density	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
644949010	Dysplasia with decreased bone density (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
644949010	Dysplasia with decreased bone density (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5081861000241118	dysplasie avec dimunition de la densité osseuse	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5081861000241118	dysplasie avec dimunition de la densité osseuse	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module