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733468006: Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3499493018 Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3499494012 Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3499495013 Suarez Stickler syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3500010010 Very rare syndrome with clinical characteristics of multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4012491000052113 syndrom med skelettdysplasi med suturben, multipla frakturer och dentinogenesis imperfecta sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Is a Dentinogenesis imperfecta true Inferred relationship Some
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Is a Dysplasia with decreased bone density true Inferred relationship Some
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Is a Digestive system hereditary disorder (disorder) false Inferred relationship Some
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Occurrence Congenital false Inferred relationship Some 3
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Occurrence Congenital false Inferred relationship Some 4
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Associated morphology utvecklingsabnormitet false Inferred relationship Some 3
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Finding site Tooth structure false Inferred relationship Some 3
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Associated morphology kongenital dysplasi false Inferred relationship Some 4
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Finding site Bone structure false Inferred relationship Some 4
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Occurrence Congenital true Inferred relationship Some 2
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Occurrence Congenital true Inferred relationship Some 1
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Finding site Tooth structure false Inferred relationship Some 1
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Associated morphology kongenital dysplasi false Inferred relationship Some 2
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Finding site Bone structure true Inferred relationship Some 2
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Associated morphology Dysplasia true Inferred relationship Some 2
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Interprets Bone density scan true Inferred relationship Some 3
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Has interpretation Below reference range true Inferred relationship Some 3
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Is a Congenital anomaly of tooth (disorder) false Inferred relationship Some
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Is a Developmental hereditary disorder false Inferred relationship Some
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Finding site Dentin structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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