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78314001: Osteogenesis imperfecta (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
129958015 Osteogenesis imperfecta en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
129960018 Osteopsathyrosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
129961019 Fragilitas ossium en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
129962014 Brittle bone syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
503805018 Brittle bone disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
503806017 OI - Osteogenesis imperfecta en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
819241013 Osteogenesis imperfecta (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
948641000195111 osteogenesi imperfetta it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
444151000172117 osteogenesis imperfecta fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
452311000172113 ostéogenèse imparfaite fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3427371001000110 Osteogenesis imperfecta de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

19 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Osteogenesis imperfecta Is a Metabolic disease of collagen false Inferred relationship Some
Osteogenesis imperfecta Is a Dysplasia with decreased bone density false Inferred relationship Some
Osteogenesis imperfecta Occurrence Congenital false Inferred relationship Some
Osteogenesis imperfecta Finding site Bone structure true Inferred relationship Some 1
Osteogenesis imperfecta Finding site Skeletal system structure false Inferred relationship Some 1
Osteogenesis imperfecta Finding site Connective tissue false Inferred relationship Some
Osteogenesis imperfecta Associated morphology Dysplasia true Inferred relationship Some 1
Osteogenesis imperfecta Finding site Connective tissue structure false Inferred relationship Some
Osteogenesis imperfecta Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
Osteogenesis imperfecta Associated morphology Congenital dysplasia false Inferred relationship Some 1
Osteogenesis imperfecta Is a Metabolic bone disease false Inferred relationship Some
Osteogenesis imperfecta Associated morphology Congenital dysplasia false Inferred relationship Some 1
Osteogenesis imperfecta Finding site Bone structure false Inferred relationship Some 1
Osteogenesis imperfecta Occurrence Congenital false Inferred relationship Some 2
Osteogenesis imperfecta Finding site Bone structure false Inferred relationship Some 2
Osteogenesis imperfecta Associated morphology Congenital dysplasia false Inferred relationship Some 2
Osteogenesis imperfecta Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Osteogenesis imperfecta Occurrence Congenital true Inferred relationship Some 1
Osteogenesis imperfecta Is a Musculoskeletal and connective tissue disorder (disorder) false Inferred relationship Some
Osteogenesis imperfecta Has interpretation Abnormal true Inferred relationship Some 2
Osteogenesis imperfecta Is a Congenital skeletal dysplasia (disorder) true Inferred relationship Some
Osteogenesis imperfecta Is a Functional bone disorder false Inferred relationship Some
Osteogenesis imperfecta Interprets Bone formation true Inferred relationship Some 2
Osteogenesis imperfecta Is a Genetic disease true Inferred relationship Some
Osteogenesis imperfecta Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Osteogenesis imperfecta Is a Abnormal bone formation true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Osteopsathyrosis Is a False Osteogenesis imperfecta Inferred relationship Some
Osteogenesis imperfecta, perinatal lethal Is a True Osteogenesis imperfecta Inferred relationship Some
Osteogenesis imperfecta with normal sclerae, dominant form Is a True Osteogenesis imperfecta Inferred relationship Some
Osteoporosis with pseudoglioma Is a True Osteogenesis imperfecta Inferred relationship Some
Osteogenesis imperfecta, perinatal lethal (disorder) Is a False Osteogenesis imperfecta Inferred relationship Some
Osteogenesis imperfecta with blue sclerae Is a False Osteogenesis imperfecta Inferred relationship Some
Feline osteogenesis imperfecta Is a False Osteogenesis imperfecta Inferred relationship Some
Osteogenesis imperfecta with progressive deformity AND normal sclerae Is a False Osteogenesis imperfecta Inferred relationship Some
Osteogenesis imperfecta - unclassifiable Is a False Osteogenesis imperfecta Inferred relationship Some
Osteogenesis imperfecta NOS Is a False Osteogenesis imperfecta Inferred relationship Some
Osteogenesis imperfecta type I (disorder) Is a True Osteogenesis imperfecta Inferred relationship Some
Osteogenesis imperfecta type III (disorder) Is a True Osteogenesis imperfecta Inferred relationship Some
Family history of osteogenesis imperfecta Associated finding True Osteogenesis imperfecta Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, osteogenesis imperfecta, presence of wormian bones, seizures, ocular abnormalities (blue sclerae, optic atrophy, retinal detachment), and dysmorphic facial features (including frontal bossing, low anterior hairline, medial flare of the eyebrows, long eyelashes, hypertelorism, depressed nasal bridge, and low-set, large ears). There have been no further descriptions in the literature since 1994. Is a True Osteogenesis imperfecta Inferred relationship Some
A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures. Is a True Osteogenesis imperfecta Inferred relationship Some
High bone mass osteogenesis imperfecta is a rare, genetic, primary bone dysplasia disorder characterized by increased bone fragility, manifesting with multiple, childhood-onset, vertebral and peripheral fractures, associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis, hearing, and sclerae are commonly normal. Is a True Osteogenesis imperfecta Inferred relationship Some
Osteogenesis imperfecta type 5 (disorder) Is a True Osteogenesis imperfecta Inferred relationship Some

This concept is not in any reference sets

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