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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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome survenue (attribut) congénital true Inferred relationship Some 2
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome survenue (attribut) congénital 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 morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome localisation d'une constatation (attribut) dent (structure corporelle) false Inferred relationship Some 1
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 2
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome localisation d'une constatation (attribut) structure osseuse true Inferred relationship Some 2
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome morphologie associée (attribut) dysplasie true Inferred relationship Some 2
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome interprète (attribut) ostéodensitométrie true Inferred relationship Some 3
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome a pour interprétation (attribut) au-dessous de l'étendue de référence true Inferred relationship Some 3
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome est un(e) (attribut) Congenital anomaly of tooth (disorder) false Inferred relationship Some
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome est un(e) (attribut) Developmental hereditary disorder false Inferred relationship Some
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome localisation d'une constatation (attribut) Dentin structure true Inferred relationship Some 1
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome est un(e) (attribut) Dentinogenesis imperfecta true Inferred relationship Some
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome est un(e) (attribut) Dysplasia with decreased bone density true Inferred relationship Some
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome est un(e) (attribut) Digestive system hereditary disorder false Inferred relationship Some
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome survenue (attribut) congénital false Inferred relationship Some 3
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome survenue (attribut) congénital false Inferred relationship Some 4
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 3
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome localisation d'une constatation (attribut) dent (structure corporelle) false Inferred relationship Some 3
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 4
Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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