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254111008: Osteogenesis imperfecta type IIB (disorder)


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
378272013 Osteogenesis imperfecta type IIB en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
644957013 Osteogenesis imperfecta type IIB (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4694543017 Osteogenesis imperfecta type IIB presents with normal or thin ribs with some fractures, discontinuous beaded ribs and some under-modeling of the femur. The disease is either autosomal dominant or autosomal recessive depending on the gene involved. Autosomal dominant cases occur either sporadically or due to germline mosaicism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4695145014 Osteogenesis imperfecta type IIB presents with normal or thin ribs with some fractures, discontinuous beaded ribs and some under-modelling of the femur. The disease is either autosomal dominant or autosomal recessive depending on the gene involved. Autosomal dominant cases occur either sporadically or due to germline mosaicism. 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
Osteogenesis imperfecta type IIB Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Osteogenesis imperfecta type IIB survenue (attribut) congénital true Inferred relationship Some 1
Osteogenesis imperfecta type IIB a pour interprétation (attribut) anormal true Inferred relationship Some 2
Osteogenesis imperfecta type IIB interprète (attribut) Bone formation, function (observable entity) true Inferred relationship Some 2
Osteogenesis imperfecta type IIB morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Osteogenesis imperfecta type IIB morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Osteogenesis imperfecta type IIB localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 1
Osteogenesis imperfecta type IIB morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Osteogenesis imperfecta type IIB localisation d'une constatation (attribut) Skeletal system structure false Inferred relationship Some 1
Osteogenesis imperfecta type IIB survenue (attribut) congénital false Inferred relationship Some 2
Osteogenesis imperfecta type IIB localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 2
Osteogenesis imperfecta type IIB morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 2
Osteogenesis imperfecta type IIB localisation d'une constatation (attribut) structure osseuse true Inferred relationship Some 1
Osteogenesis imperfecta type IIB localisation d'une constatation (attribut) Connective tissue false Inferred relationship Some
Osteogenesis imperfecta type IIB survenue (attribut) congénital false Inferred relationship Some
Osteogenesis imperfecta type IIB localisation d'une constatation (attribut) Connective tissue structure false Inferred relationship Some
Osteogenesis imperfecta type IIB est un(e) (attribut) Osteogenesis imperfecta, perinatal lethal true Inferred relationship Some
Osteogenesis imperfecta type IIB est un(e) (attribut) Fragilitas ossium congenita false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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