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 |
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 |
|