1264041000: Autosomal dominant osteopetrosis type 1 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Osteosclerosis\Autosomal dominant osteopetrosis type 1 (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis (disorder)\Autosomal dominant osteopetrosis type 1 (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Osteosclerosis\Autosomal dominant osteopetrosis type 1 (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Osteopetrosis (disorder)\Autosomal dominant osteopetrosis type 1 (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Osteosclerosis\Autosomal dominant osteopetrosis type 1 (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Osteopetrosis (disorder)\Autosomal dominant osteopetrosis type 1 (disorder)
• \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\Osteosclerosis\Autosomal dominant osteopetrosis type 1 (disorder)
• \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\Osteopetrosis (disorder)\Autosomal dominant osteopetrosis type 1 (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteosclerosis\Autosomal dominant osteopetrosis type 1 (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis (disorder)\Autosomal dominant osteopetrosis type 1 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Osteosclerosis\Autosomal dominant osteopetrosis type 1 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Osteopetrosis (disorder)\Autosomal dominant osteopetrosis type 1 (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteosclerosis\Autosomal dominant osteopetrosis type 1 (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteopetrosis (disorder)\Autosomal dominant osteopetrosis type 1 (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant osteopetrosis type 1 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteosclerosis\Autosomal dominant osteopetrosis type 1 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis (disorder)\Autosomal dominant osteopetrosis type 1 (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Osteosclerosis\Autosomal dominant osteopetrosis type 1 (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Osteopetrosis (disorder)\Autosomal dominant osteopetrosis type 1 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Osteosclerosis\Autosomal dominant osteopetrosis type 1 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Osteopetrosis (disorder)\Autosomal dominant osteopetrosis type 1 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Osteosclerosis\Autosomal dominant osteopetrosis type 1 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Osteopetrosis (disorder)\Autosomal dominant osteopetrosis type 1 (disorder)
• \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\Osteosclerosis\Autosomal dominant osteopetrosis type 1 (disorder)
• \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\Osteopetrosis (disorder)\Autosomal dominant osteopetrosis type 1 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteosclerosis\Autosomal dominant osteopetrosis type 1 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis (disorder)\Autosomal dominant osteopetrosis type 1 (disorder)
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Osteosclerosis\Autosomal dominant osteopetrosis type 1 (disorder)
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Osteopetrosis (disorder)\Autosomal dominant osteopetrosis type 1 (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Osteosclerosis\Autosomal dominant osteopetrosis type 1 (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis (disorder)\Autosomal dominant osteopetrosis type 1 (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Osteosclerosis\Autosomal dominant osteopetrosis type 1 (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Osteopetrosis (disorder)\Autosomal dominant osteopetrosis type 1 (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteosclerosis\Autosomal dominant osteopetrosis type 1 (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis (disorder)\Autosomal dominant osteopetrosis type 1 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2023. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5171029013	Autosomal dominant osteopetrosis type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5171030015	Autosomal dominant osteopetrosis type 1 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5400471019	A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400472014	A rare sclerosing bone disorder characterised by skeletal densification that predominantly involves the cranial vault.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5171029013	Autosomal dominant osteopetrosis type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5171030015	Autosomal dominant osteopetrosis type 1 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5171031016	A rare sclerosing bone disorder with characteristics of skeletal densification that predominantly involves the cranial vault. The disease typically has onset in late childhood or adolescence. Clinical signs include chronic bone pain and disorders of the cranial nerves (trigeminal neuralgia, facial palsy, hearing loss). The disease is due to a gain-of-function mutation in the LRP5 gene (Low density lipoprotein receptor-related protein 5; 11q12-q13) that results in increased bone formation. Transmission is autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400471019	A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400472014	A rare sclerosing bone disorder characterised by skeletal densification that predominantly involves the cranial vault.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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