digitorenocerebral syndrome

Preferred Label : digitorenocerebral syndrome;

Définition CISMeF : DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures.;

MeSH synonym : DOOR syndrome; deafness, onychodystrophy, osteodystrophy, and mental retardation syndrome; brachydactyly due to absence of distal phalanges; eronen syndrome;

Details

Origin ID

C563052;

UMLS CUI

C0795934;

Currated CISMeF NLP mapping
- DOOR syndrome [MedDRA Preferred Term]
- DOORS syndrome [DO Concept]
- DOORS syndrome [ORDO Disease]
- Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome [OMIM Phenotype]
- Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) [SNOMED CT concept]
- Digitorenocerebral syndrome [ORDO Disease]
False automatic mappings
- Deafness-onychodystrophy syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- craniofacial abnormalities [MeSH Descriptor]
- hand deformities, congenital [MeSH Descriptor]
- hearing loss, sensorineural [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- nails, malformed [MeSH Descriptor]
Record concept(s)
- digitorenocerebral syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- DOOR syndrome [MedDRA Preferred Term]
- Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome [OMIM Phenotype]
- Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) [SNOMED CT concept]
- Digitorenocerebral syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

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