725050005: Autosomal dominant osteopetrosis type 2 (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Autosomal dominant osteopetrosis type 2
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Osteopetrosis\Autosomal dominant osteopetrosis type 2
• \Musculoskeletal finding\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Osteopetrosis\Autosomal dominant osteopetrosis type 2
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Autosomal dominant osteopetrosis type 2
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Autosomal dominant osteopetrosis type 2
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Autosomal dominant osteopetrosis type 2
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteopetrosis\Autosomal dominant osteopetrosis type 2
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant osteopetrosis type 2
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Autosomal dominant osteopetrosis type 2
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Osteopetrosis\Autosomal dominant osteopetrosis type 2
• \Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Osteopetrosis\Autosomal dominant osteopetrosis type 2
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Autosomal dominant osteopetrosis type 2
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Autosomal dominant osteopetrosis type 2
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Autosomal dominant osteopetrosis type 2
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Osteopetrosis\Autosomal dominant osteopetrosis type 2
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Autosomal dominant osteopetrosis type 2
• \Disease\Developmental disorder\Developmental hereditary disorder\Osteopetrosis\Autosomal dominant osteopetrosis type 2
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Autosomal dominant osteopetrosis type 2

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3437499013	Autosomal dominant osteopetrosis type 2	en	Synonym	Active	Case insensitive	SNOMED CT core
3437500016	Albers Schonberg osteopetrosis	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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