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\Autosomal dominant osteopetrosis type 1
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopetrosis\Autosomal dominant osteopetrosis type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteosclerosis\Autosomal dominant osteopetrosis type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Autosomal dominant osteopetrosis type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Osteosclerosis\Autosomal dominant osteopetrosis type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Osteopetrosis\Autosomal dominant osteopetrosis type 1
\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\Autosomal dominant osteopetrosis type 1
\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 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteosclerosis\Autosomal dominant osteopetrosis type 1
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Autosomal dominant osteopetrosis type 1

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteosclerosis\Autosomal dominant osteopetrosis type 1
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Autosomal dominant osteopetrosis type 1
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteosclerosis\Autosomal dominant osteopetrosis type 1
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteopetrosis\Autosomal dominant osteopetrosis type 1
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant osteopetrosis type 1
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteosclerosis\Autosomal dominant osteopetrosis type 1
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Autosomal dominant osteopetrosis type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteosclerosis\Autosomal dominant osteopetrosis type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Autosomal dominant osteopetrosis type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Osteosclerosis\Autosomal dominant osteopetrosis type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Osteopetrosis\Autosomal dominant osteopetrosis type 1
\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\Autosomal dominant osteopetrosis type 1
\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 1
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteosclerosis\Autosomal dominant osteopetrosis type 1
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Autosomal dominant osteopetrosis type 1
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteosclerosis\Autosomal dominant osteopetrosis type 1
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Autosomal dominant osteopetrosis type 1
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Osteosclerosis\Autosomal dominant osteopetrosis type 1
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Osteopetrosis\Autosomal dominant osteopetrosis type 1
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteosclerosis\Autosomal dominant osteopetrosis type 1
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopetrosis\Autosomal dominant osteopetrosis type 1
\Disease\Developmental disorder\Developmental hereditary disorder\Osteosclerosis\Autosomal dominant osteopetrosis type 1
\Disease\Developmental disorder\Developmental hereditary disorder\Osteopetrosis\Autosomal dominant osteopetrosis type 1
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteosclerosis\Autosomal dominant osteopetrosis type 1
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Autosomal dominant osteopetrosis type 1

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

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

5931261000052117 autosomalt dominant ostepetros, typ 1 sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant osteopetrosis type 1	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant osteopetrosis type 1	Is a	Osteopetrosis	true	Inferred relationship	Some
Autosomal dominant osteopetrosis type 1	Is a	Osteosclerosis	true	Inferred relationship	Some
Autosomal dominant osteopetrosis type 1	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	3
Autosomal dominant osteopetrosis type 1	Interprets	Osteoclast turnover rate	true	Inferred relationship	Some	2
Autosomal dominant osteopetrosis type 1	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Autosomal dominant osteopetrosis type 1	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal dominant osteopetrosis type 1	Finding site	Bone structure	true	Inferred relationship	Some	1
Autosomal dominant osteopetrosis type 1	Associated morphology	Bony sclerosis	true	Inferred relationship	Some	1
Autosomal dominant osteopetrosis type 1	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

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
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
5931261000052117	autosomalt dominant ostepetros, typ 1	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)