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\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\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\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\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 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 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\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\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\A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
\Disease\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\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\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\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\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\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 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 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\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\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

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 Inactive 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
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

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.	Is a	Osteopetrosis	true	Inferred relationship	Some
A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.	Is a	Osteosclerosis	true	Inferred relationship	Some
A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.	Clinical course	Progressive	true	Inferred relationship	Some	3
A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.	Interprets	Osteoclast turnover rate	true	Inferred relationship	Some	2
A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.	Has interpretation	Below reference range	true	Inferred relationship	Some	2
A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.	Occurrence	Congenital	true	Inferred relationship	Some	1
A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.	Finding site	Bone structure	true	Inferred relationship	Some	1
A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.	Associated morphology	Bony sclerosis	true	Inferred relationship	Some	1
A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

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
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	Inactive	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
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