1264041000: Autosomal dominant osteopetrosis type 1 (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\Osteosclerosis\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopetrosis\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Osteosclerosis\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Osteopetrosis\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Osteosclerosis\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Osteopetrosis\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteosclerosis\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopetrosis\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteosclerosis\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteosclerosis\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteosclerosis\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteopetrosis\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteosclerosis\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteosclerosis\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Osteosclerosis\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Osteopetrosis\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Osteosclerosis\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Osteopetrosis\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteosclerosis\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopetrosis\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteosclerosis\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Osteosclerosis\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Osteopetrosis\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteosclerosis\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopetrosis\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
• \Disease\Developmental disorder\Developmental hereditary disorder\Osteosclerosis\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
• \Disease\Developmental disorder\Developmental hereditary disorder\Osteopetrosis\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteosclerosis\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.

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
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

Expanded Value Set

Reference Sets

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

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