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721089006: Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability 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
3323449017 Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323450017 Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402597017 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402598010 A rare malformative syndrome with dentinogenesis imperfecta, characterised by dentin dysplasia with opalescent discolouration 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3323449017 Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3323449017 Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323450017 Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3323450017 Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323451018 Syndrome with the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphism, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402597017 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402598010 A rare malformative syndrome with dentinogenesis imperfecta, characterised by dentin dysplasia with opalescent discolouration 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3381311001000110 Dentinogenesis imperfecta-Kleinwuchs-Hörverlust-Intelligenzminderung-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
917921000172111 syndrome de dentinogenèse imparfaite-petite taille-surdité-déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
917921000172111 syndrome de dentinogenèse imparfaite-petite taille-surdité-déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3381311001000110 Dentinogenesis imperfecta-Kleinwuchs-Hörverlust-Intelligenzminderung-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a Sensorineural hearing loss true Inferred relationship Existential restriction modifier (core metadata concept)
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a Congenital hearing disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a Dentinogenesis imperfecta true Inferred relationship Existential restriction modifier (core metadata concept)
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a Hearing loss associated with syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a Short stature disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a Digestive system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Finding site Ear structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 2
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Interprets entité observable fonctionnelle false Inferred relationship Existential restriction modifier (core metadata concept)
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Finding site Tooth structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Finding site Tooth structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a Congenital anomaly of tooth (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Finding site Structure of auditory system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a Developmental hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Interprets Height / growth measure (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Finding site Dentin structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 7
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 7

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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