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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
5401614019 A rare primary bone dysplasia characterized by the association of spondylometaphyseal dysplasia, generalized joint laxity, and dentinogenesis imperfecta. Main skeletal abnormalities comprise short stature, narrow chest, scoliosis, mesomelic limb shortening, and brachydactyly. Radiographic features include severe metaphyseal irregularities of the tubular bones, platyspondyly with coronal clefts, cone-shaped epiphyses of the hands, square iliac wings, and coxa valga. Additional extraskeletal manifestations like pulmonary hypoplasia, cystic renal disease, and non-obstructive hydrocephalus have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401615018 A rare primary bone dysplasia characterised by the association of spondylometaphyseal dysplasia, generalised joint laxity, and dentinogenesis imperfecta. Main skeletal abnormalities comprise short stature, narrow chest, scoliosis, mesomelic limb shortening, and brachydactyly. Radiographic features include severe metaphyseal irregularities of the tubular bones, platyspondyly with coronal clefts, cone-shaped epiphyses of the hands, square iliac wings, and coxa valga. Additional extraskeletal manifestations like pulmonary hypoplasia, cystic renal disease, and non-obstructive hydrocephalus have also been reported. 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 Congenital dysplasia 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 Developmental anomaly 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 Congenital dysplasia 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

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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