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196286005: Dentinogenesis imperfecta (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
301910015 Dentinogenesis imperfecta en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
580498015 Dentinogenesis imperfecta (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4551866016 Hereditary opalescent dentin en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
900261000172110 DGI - dentinogenèse imparfaite fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
989781000172116 dentinogenèse imparfaite fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3444251001000116 Dentinogenesis imperfecta de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


9 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Dentinogenesis imperfecta Is a Congenital anomaly of teeth false Inferred relationship Some
Dentinogenesis imperfecta Is a Hereditary or idiopathic disturbance of tooth structure false Inferred relationship Some
Dentinogenesis imperfecta Associated morphology anomalie congénitale false Inferred relationship Some 1
Dentinogenesis imperfecta Associated morphology Congenital malformation false Inferred relationship Some 3
Dentinogenesis imperfecta Finding site Tongue structure false Inferred relationship Some
Dentinogenesis imperfecta Finding site Tooth structure false Inferred relationship Some 1
Dentinogenesis imperfecta Finding site Jaw region structure false Inferred relationship Some
Dentinogenesis imperfecta Occurrence Congenital false Inferred relationship Some
Dentinogenesis imperfecta Associated morphology anomalie du développement false Inferred relationship Some 1
Dentinogenesis imperfecta Finding site Digestive organ structure false Inferred relationship Some 1
Dentinogenesis imperfecta Finding site Oral cavity structure false Inferred relationship Some 3
Dentinogenesis imperfecta Finding site Face structure false Inferred relationship Some
Dentinogenesis imperfecta Finding site Digestive organ structure false Inferred relationship Some 1
Dentinogenesis imperfecta Finding site Upper aerodigestive tract structure false Inferred relationship Some
Dentinogenesis imperfecta Is a Congenital anomaly of tooth (disorder) true Inferred relationship Some
Dentinogenesis imperfecta Associated morphology anomalie congénitale false Inferred relationship Some 1
Dentinogenesis imperfecta Finding site Tooth structure false Inferred relationship Some 1
Dentinogenesis imperfecta Occurrence Congenital false Inferred relationship Some 2
Dentinogenesis imperfecta Associated morphology anomalie du développement false Inferred relationship Some 2
Dentinogenesis imperfecta Finding site Tooth structure false Inferred relationship Some 2
Dentinogenesis imperfecta Occurrence Congenital true Inferred relationship Some 1
Dentinogenesis imperfecta Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Dentinogenesis imperfecta Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Dentinogenesis imperfecta Is a Hereditary disorder of tooth true Inferred relationship Some
Dentinogenesis imperfecta Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
Dentinogenesis imperfecta Is a Disorder of hard tissues of teeth (disorder) true Inferred relationship Some
Dentinogenesis imperfecta Finding site Dentin structure true Inferred relationship Some 1
Dentinogenesis imperfecta Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Dentinogenesis imperfecta - Shield's type I Is a True Dentinogenesis imperfecta Inferred relationship Some
Dentinogenesis imperfecta - Shield's type II Is a True Dentinogenesis imperfecta Inferred relationship Some
Dentinogenesis imperfecta - Shield's type III Is a True Dentinogenesis imperfecta Inferred relationship Some
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta Is a True Dentinogenesis imperfecta Inferred relationship Some
A rare malformative syndrome with dentinogenesis imperfecta, characterized by dentin dysplasia with opalescent discoloration and severe attrition of primary and permanent teeth, and delayed eruption, bulbous crowns, long and tapered roots, and progressive root canal obliteration of the permanent dentition, associated with proportionate short stature, sensorineural hearing loss, mild intellectual disability, and dysmorphic facial features. The latter include a prominent nose with high nasal bridge and short philtrum. Osteoporosis, mild platyspondyly, and cone-shaped epiphyses have also been reported. Is a True Dentinogenesis imperfecta Inferred relationship Some
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. Is a True Dentinogenesis imperfecta Inferred relationship Some
A rare skeletal disorder characterized clinically by 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. Is a True Dentinogenesis imperfecta Inferred relationship Some
Shell teeth Is a True Dentinogenesis imperfecta Inferred relationship Some
Osteogenesis imperfecta, type IV B Is a True Dentinogenesis imperfecta Inferred relationship Some

This concept is not in any reference sets

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