blepharophimosis syndrome type 2

Preferred Label : blepharophimosis syndrome type 2;

MeSH synonym : blepharophimosis, ptosis, and epicanthus inversus type 2; blepharophimosis, ptosis, and epicanthus inversus without premature ovarian failure;

Details

Origin ID

C536234;

UMLS CUI

C2931136;

CISMeF manual mappings
- Blepharophimosis-ptosis-epicanthus inversus syndrome [ORDO Disease]
- blepharophimosis syndrome [SNOMED Notion]
Currated CISMeF NLP mapping
- Blepharophimosis - epicanthus inversus - ptosis [ICD-11 More detail]
- Blepharophimosis, ptosis, and epicanthus inversus [OMIM Phenotype]
MeSH term(s) associated for indexing
- blepharophimosis [MeSH Descriptor]
- skin abnormalities [MeSH Descriptor]
Record concept(s)
- Blepharophimosis syndrome type 2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- 3q23 deletion [ICD-11 More detail]

Keyword's position in hierarchy(ies) :

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