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717823001: syndroom van chondrodysplasie, dentinogenesis imperfecta en gewrichtslaxiteit (aandoening)


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
6258091000146114 syndroom van Goldblatt nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6258101000146119 Goldblatt-chondrodysplasie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6952171000146113 syndroom van chondrodysplasie, dentinogenesis imperfecta en gewrichtslaxiteit nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6952181000146110 syndroom van chondrodysplasie, dentinogenesis imperfecta en gewrichtslaxiteit (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7016501000146112 odontochondrodysplasie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 3
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Finding site Bone structure false Inferred relationship Some 3
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 4
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Finding site Tooth structure false Inferred relationship Some 4
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Is a Metaphyseal chondrodysplasia true Inferred relationship Some
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Is a Dentinogenesis imperfecta true Inferred relationship Some
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Is a Digestive system hereditary disorder (disorder) false Inferred relationship Some
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
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) Occurrence Congenital 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) Occurrence Congenital true Inferred relationship Some 2
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 2
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Finding site Tooth structure false Inferred relationship Some 1
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Finding site Bone structure false Inferred relationship Some 2
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 2
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Is a Congenital anomaly of tooth (disorder) false Inferred relationship Some
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Is a Developmental hereditary disorder false Inferred relationship Some
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Interprets Height / growth measure false Inferred relationship Some 3
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Finding site Dentin structure true Inferred relationship Some 1
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Is a Congenital anomaly of limb false Inferred relationship Some
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Interprets Limb length true Inferred relationship Some 3
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Has interpretation Below reference range true Inferred relationship Some 3
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Interprets Body height measure (observable entity) true Inferred relationship Some 4
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Has interpretation Below reference range true Inferred relationship Some 4
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Finding site Bone structure of extremity true Inferred relationship Some 2
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Is a Congenital dysplasia of limb (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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