725050005: Autosomal dominant osteopetrosis type 2 (disorder)

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

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopetrosis\Autosomal dominant osteopetrosis type 2 (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Autosomal dominant osteopetrosis type 2 (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Osteopetrosis\Autosomal dominant osteopetrosis type 2 (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopetrosis\Autosomal dominant osteopetrosis type 2 (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Autosomal dominant osteopetrosis type 2 (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Autosomal dominant osteopetrosis type 2 (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteopetrosis\Autosomal dominant osteopetrosis type 2 (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant osteopetrosis type 2 (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Autosomal dominant osteopetrosis type 2 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Autosomal dominant osteopetrosis type 2 (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Autosomal dominant osteopetrosis type 2 (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Osteopetrosis\Autosomal dominant osteopetrosis type 2 (disorder)
\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\Osteopetrosis\Autosomal dominant osteopetrosis type 2 (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Autosomal dominant osteopetrosis type 2 (disorder)
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Osteopetrosis\Autosomal dominant osteopetrosis type 2 (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopetrosis\Autosomal dominant osteopetrosis type 2 (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Osteopetrosis\Autosomal dominant osteopetrosis type 2 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant osteopetrosis type 2 (disorder)	Is a	Osteopetrosis	true	Inferred relationship	Some
Autosomal dominant osteopetrosis type 2 (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant osteopetrosis type 2 (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Autosomal dominant osteopetrosis type 2 (disorder)	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Autosomal dominant osteopetrosis type 2 (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	1
Autosomal dominant osteopetrosis type 2 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal dominant osteopetrosis type 2 (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Autosomal dominant osteopetrosis type 2 (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Autosomal dominant osteopetrosis type 2 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal dominant osteopetrosis type 2 (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Autosomal dominant osteopetrosis type 2 (disorder)	Interprets	Osteoclast turnover rate	true	Inferred relationship	Some	2
Autosomal dominant osteopetrosis type 2 (disorder)	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

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