oculodentodigital dysplasia

Preferred Label : oculodentodigital dysplasia;

MeSH note : PROM mutation in GJA1 gene;

MeSH synonym : oculodentoosseous dysplasia; ODD syndrome; Oculo-Dento-Digital dysplasia; oculodentodigital syndrome; Osseous-Oculo-Dental dysplasia; Oculo-Dento-Osseous dysplasia;

Details

Origin ID

C563160;

UMLS CUI

C0812437;

Automatic exact mappings (from CISMeF team)
- Oculo-dento-digital dysplasia [ICD-11 More detail]
- Oculo-dento-osseous dysplasia [ACR pathology]
- Oculodento-osseous dysplasia (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Oculodentodigital dysplasia [PASCAL descriptor]
- Oculodentodigital dysplasia [MedDRA Preferred Term]
- Oculodentodigital dysplasia [OMIM Phenotype]
- Oculodentodigital dysplasia [ORDO Disease]
- Oculodentodigital syndrome (disorder) [SNOMED CT concept]
- oculodentodigital dysplasia [DO Concept]
- oculodentodigital syndrome [SNOMED Notion]
- oculodentodigital syndrome [Disease (Nov.)]
DO Cross reference
- oculodentodigital dysplasia [DO Concept]
MeSH term(s) associated for indexing
- craniofacial abnormalities [MeSH Descriptor]
- eye abnormalities [MeSH Descriptor]
- foot deformities, congenital [MeSH Descriptor]
- syndactyly [MeSH Descriptor]
- tooth abnormalities [MeSH Descriptor]
Record concept(s)
- oculodentodigital dysplasia [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Ectodermal dysplasia-ocular malformation syndrome (disorder) [SNOMED CT concept]
- Oculodentodigital dysplasia [MedDRA Preferred Term]
- Oculodentodigital dysplasia [OMIM Phenotype]
- Oculodentodigital dysplasia [ORDO Disease]
- Oculodentodigital dysplasia [PASCAL descriptor]
- Oculodentodigital syndrome (disorder) [SNOMED CT concept]
- ectodermal dysplasia-ocular malformation syndrome [SNOMED Notion]
- oculodentodigital dysplasia [DO Concept]
- oculodentodigital syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

Main resources

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