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725050005: Autosomal dominant osteopetrosis type 2 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3437498017 Autosomal dominant osteopetrosis type 2 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3437499013 Autosomal dominant osteopetrosis type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3437500016 Albers Schonberg osteopetrosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403381015 A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of sandwich vertebrae (dense bands of sclerosis parallel to the vertebral endplates). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403382010 A sclerosing disorder of the skeleton characterised by increased bone density that classically displays the radiographic sign of sandwich vertebrae (dense bands of sclerosis parallel to the vertebral endplates). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3437498017 Autosomal dominant osteopetrosis type 2 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3437499013 Autosomal dominant osteopetrosis type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3437500016 Albers Schonberg osteopetrosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3437501017 A sclerosing disorder of the skeleton with increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates). Onset of the disease is typically in late childhood or adolescence. The main manifestations are confined to the skeleton, including fractures, scoliosis, hip osteoarthritis and osteomyelitis, particularly affecting the mandible in association with dental abscess or caries. The disease is caused by heterozygous mutations in the chloride channel 7 (ClCN7) gene (16p13). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4611849018 A sclerosing disorder of the skeleton with increased bone density that classically displays the radiographic sign of sandwich vertebrae (dense bands of sclerosis parallel to the vertebral endplates). Onset of the disease is typically in late childhood or adolescence. The main manifestations are confined to the skeleton, including fractures, scoliosis, hip osteoarthritis and osteomyelitis, particularly affecting the mandible in association with dental abscess or caries. The disease is caused by heterozygous mutations in the chloride channel 7 (ClCN7) gene (16p13). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403381015 A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of sandwich vertebrae (dense bands of sclerosis parallel to the vertebral endplates). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403382010 A sclerosing disorder of the skeleton characterised by increased bone density that classically displays the radiographic sign of sandwich vertebrae (dense bands of sclerosis parallel to the vertebral endplates). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3386451001000112 Osteopetrosis Albers-Schönberg de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5488421000241114 ostéopétrose autosomique dominante de type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5488421000241114 ostéopétrose autosomique dominante de type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3386451001000112 Osteopetrosis Albers-Schönberg de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of sandwich vertebrae (dense bands of sclerosis parallel to the vertebral endplates). Is a Osteopetrosis (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of sandwich vertebrae (dense bands of sclerosis parallel to the vertebral endplates). Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of sandwich vertebrae (dense bands of sclerosis parallel to the vertebral endplates). Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of sandwich vertebrae (dense bands of sclerosis parallel to the vertebral endplates). Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of sandwich vertebrae (dense bands of sclerosis parallel to the vertebral endplates). Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of sandwich vertebrae (dense bands of sclerosis parallel to the vertebral endplates). Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of sandwich vertebrae (dense bands of sclerosis parallel to the vertebral endplates). Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of sandwich vertebrae (dense bands of sclerosis parallel to the vertebral endplates). Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of sandwich vertebrae (dense bands of sclerosis parallel to the vertebral endplates). Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of sandwich vertebrae (dense bands of sclerosis parallel to the vertebral endplates). Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 2
A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of sandwich vertebrae (dense bands of sclerosis parallel to the vertebral endplates). Interprets Osteoclast turnover rate true Inferred relationship Existential restriction modifier (core metadata concept) 2
A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of sandwich vertebrae (dense bands of sclerosis parallel to the vertebral endplates). Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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