75654009: Benign autosomal dominant osteopetrosis (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\Osteopetrosis\Benign autosomal dominant osteopetrosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Benign autosomal dominant osteopetrosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Osteopetrosis\Benign autosomal dominant osteopetrosis
\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\Benign autosomal dominant osteopetrosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Benign autosomal dominant osteopetrosis

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

125655011 Benign autosomal dominant osteopetrosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

816288011 Benign autosomal dominant osteopetrosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3700071000052117 benign autosomalt dominant osteopetros 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
Benign autosomal dominant osteopetrosis	Is a	Osteopetrosis	true	Inferred relationship	Some
Benign autosomal dominant osteopetrosis	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Benign autosomal dominant osteopetrosis	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Benign autosomal dominant osteopetrosis	Occurrence	Congenital	false	Inferred relationship	Some
Benign autosomal dominant osteopetrosis	Finding site	Bone structure	true	Inferred relationship	Some	1
Benign autosomal dominant osteopetrosis	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Benign autosomal dominant osteopetrosis	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Benign autosomal dominant osteopetrosis	Finding site	Bone structure	false	Inferred relationship	Some	1
Benign autosomal dominant osteopetrosis	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Benign autosomal dominant osteopetrosis	Occurrence	Congenital	false	Inferred relationship	Some	2
Benign autosomal dominant osteopetrosis	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	2
Benign autosomal dominant osteopetrosis	Finding site	Bone structure	false	Inferred relationship	Some	2
Benign autosomal dominant osteopetrosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Benign autosomal dominant osteopetrosis	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Benign autosomal dominant osteopetrosis	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Benign autosomal dominant osteopetrosis	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Benign autosomal dominant osteopetrosis	Interprets	Osteoclast turnover rate	true	Inferred relationship	Some	2
Benign autosomal dominant osteopetrosis	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
125655011	Benign autosomal dominant osteopetrosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
816288011	Benign autosomal dominant osteopetrosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3700071000052117	benign autosomalt dominant osteopetros	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)