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717823001: Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3323629016 Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323630014 Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323631013 Goldblatt chondrodysplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3323632018 Goldblatt syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3323633011 Odontochondrodysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323634017 Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta. To date, 11 patients have been reported. Chondrodysplasia has characteristics of mesomelic limb shortening, joint laxity, platyspondyly with coronal clefts, brachydactyly and coxa valga. The affected patients have no intellectual deficit. The condition is most probably hereditary, transmitted as an autosomal recessive trait. 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
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 2
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) localisation d'une constatation (attribut) dent (structure corporelle) false Inferred relationship Some 1
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) localisation d'une constatation (attribut) structure osseuse true Inferred relationship Some 2
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 2
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) est un(e) (attribut) Congenital anomaly of tooth (disorder) false Inferred relationship Some
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder false Inferred relationship Some
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) interprète (attribut) Height / growth measure true Inferred relationship Some 3
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) localisation d'une constatation (attribut) Dentin structure true Inferred relationship Some 1
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 3
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 3
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 4
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) localisation d'une constatation (attribut) dent (structure corporelle) false Inferred relationship Some 4
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) est un(e) (attribut) Metaphyseal chondrodysplasia true Inferred relationship Some
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) est un(e) (attribut) Dentinogenesis imperfecta true Inferred relationship Some
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) est un(e) (attribut) Digestive system hereditary disorder false Inferred relationship Some
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 3
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) survenue (attribut) congénital 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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