126533001: Disorder with defective osteoid mineralization (disorder)

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

\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Metabolic bone disease (disorder)\Disorder with defective osteoid mineralization
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease (disorder)\Disorder with defective osteoid mineralization

\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease (disorder)\Disorder with defective osteoid mineralization
\Disease\Metabolic disease\Metabolic bone disease (disorder)\Disorder with defective osteoid mineralization
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder with defective osteoid mineralization

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

Descriptions:

Id Description Lang Type Status Case? Module

94570017 Disorder with defective osteoid mineralization en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

473704011 Disorder with defective osteoid mineralisation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

730511011 Disorder with defective osteoid mineralization (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

94570017 Disorder with defective osteoid mineralization en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

94570017 Disorder with defective osteoid mineralization en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

473704011 Disorder with defective osteoid mineralisation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

473704011 Disorder with defective osteoid mineralisation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

730511011 Disorder with defective osteoid mineralization (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

730511011 Disorder with defective osteoid mineralization (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6080751000241119 affection avec un défaut de minéralisation du tissu ostéoïde fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6080761000241116 affection avec minéralisation osseuse défectueuse fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6080751000241119 affection avec un défaut de minéralisation du tissu ostéoïde fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6080761000241116 affection avec minéralisation osseuse défectueuse fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Disorder with defective osteoid mineralization	Is a	Metabolic bone disease (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Disorder with defective osteoid mineralization	Is a	Disorder of mineral metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Disorder with defective osteoid mineralization	Finding site	Cartilaginous tissue structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Disorder with defective osteoid mineralization	Finding site	Osteoid tissue	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Rickets	Is a	True	Disorder with defective osteoid mineralization	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteomalacia	Is a	True	Disorder with defective osteoid mineralization	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive hypophosphatemic bone disease	Is a	True	Disorder with defective osteoid mineralization	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.	Is a	True	Disorder with defective osteoid mineralization	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets

Description inactivation indicator reference set