1003379004: Osteogenesis imperfecta type 5 (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of general physiological development\Disorder of stature\Short stature disorder\Osteogenesis imperfecta type 5

\Functional finding\Abnormal bone formation\Osteogenesis imperfecta\Osteogenesis imperfecta type 5

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Osteogenesis imperfecta type 5

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta type 5
\Musculoskeletal finding\Bone finding\Abnormal bone formation\Osteogenesis imperfecta\Osteogenesis imperfecta type 5
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteogenesis imperfecta type 5
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta type 5
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta type 5
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta type 5
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta type 5

\Disease\Genetic disease\Osteogenesis imperfecta\Osteogenesis imperfecta type 5
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteogenesis imperfecta type 5
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteogenesis imperfecta type 5
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Osteogenesis imperfecta type 5
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteogenesis imperfecta type 5
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteogenesis imperfecta type 5
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta type 5
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta type 5
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta type 5
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta type 5
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta type 5
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta type 5
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta type 5
\Disease\Developmental disorder\Developmental hereditary disorder\Osteogenesis imperfecta type 5
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteogenesis imperfecta\Osteogenesis imperfecta type 5
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteogenesis imperfecta\Osteogenesis imperfecta type 5
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Osteogenesis imperfecta type 5

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

4165353011 Osteogenesis imperfecta type V en Synonym Active Only initial character case insensitive SNOMED CT core module

4168115013 Osteogenesis imperfecta type 5 (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

4168116014 Osteogenesis imperfecta type 5 en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteogenesis imperfecta type 5	Is a	Short stature disorder	true	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta type 5	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta type 5	Is a	Autosomal hereditary disorder	true	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta type 5	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta type 5	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta type 5	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta type 5	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta type 5	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Osteogenesis imperfecta type 5	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta type 5	Is a	Functional finding	false	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta type 5	Is a	Osteogenesis imperfecta	true	Inferred relationship	Existential restriction modifier
Osteogenesis imperfecta type 5	Interprets	Bone formation, function	true	Inferred relationship	Existential restriction modifier	2
Osteogenesis imperfecta type 5	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	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
4165353011	Osteogenesis imperfecta type V	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
4168115013	Osteogenesis imperfecta type 5 (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
4168116014	Osteogenesis imperfecta type 5	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module