blepharophimosis syndrome ohdo type

Preferred Label : blepharophimosis syndrome ohdo type;

MeSH synonym : ohdo madokoro sonoda syndrome; mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth; ohdo blepharophimosis syndrome; mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth;

Details

Origin ID

C536232;

UMLS CUI

C0796094;

Automatic exact mappings (from CISMeF team)
- Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Blepharophimosis-intellectual disability syndrome, Ohdo type [ORDO Disease]
- Ohdo syndrome [DO Concept]
- Ohdo syndrome [OMIM Phenotype]
DO Cross reference
- Ohdo syndrome [DO Concept]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- blepharophimosis [MeSH Descriptor]
- blepharoptosis [MeSH Descriptor]
- heart defects, congenital [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
Ne pas confondre avec
- madokoro ohdo sonoda syndrome [MeSH Supplementary Concept]
Record concept(s)
- Blepharophimosis syndrome Ohdo type [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) [SNOMED CT concept]
- Ohdo syndrome [OMIM Phenotype]
- Ohdo syndrome [DO Concept]

Keyword's position in hierarchy(ies) :

Main resources

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