blepharophimosis, ptosis, and epicanthus inversus

Preferred Label : blepharophimosis, ptosis, and epicanthus inversus;

MeSH note : mutation in FOXL2; type 1 also has premature ovarian failure associated;

CISMeF synonym : blepharophimosis, ptosis, and epicanthus inversus type II;

MeSH synonym : blepharophimosis, ptosis, and epicanthus inversus type I; blepharophimosis syndrome; blepharophimosis, ptosis, and epicanthus inversus syndrome;

Details

Origin ID

C562419;

UMLS CUI

C0220663;

Currated CISMeF NLP mapping
- 3q23 deletion [ICD-11 More detail]
- BPES syndrome [MedDRA Preferred Term]
- Blepharophimosis - epicanthus inversus - ptosis [ICD-11 More detail]
- Blepharophimosis epicanthus inversus ptosis syndrome (disorder) [SNOMED CT concept]
- Blepharophimosis syndrome (disorder) [SNOMED CT concept]
- Blepharophimosis, ptosis, and epicanthus inversus [OMIM Phenotype]
- Blepharophimosis, ptosis, and epicanthus inversus syndrome [MedDRA LLT]
- Blepharophimosis-ptosis-epicanthus inversus syndrome [ORDO Disease]
- blepharophimosis syndrome [SNOMED Notion]
- blepharophimosis, ptosis, and epicanthus inversus syndrome [DO Concept]
DO Cross reference
- blepharophimosis, ptosis, and epicanthus inversus syndrome [DO Concept]
MeSH term(s) associated for indexing
- blepharophimosis [MeSH Descriptor]
- skin abnormalities [MeSH Descriptor]
- urogenital abnormalities [MeSH Descriptor]
Record concept(s)
- blepharophimosis, ptosis, and epicanthus inversus [MeSH concept]
- blepharophimosis, ptosis, and epicanthus inversus type II [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3q23 deletion [ICD-11 More detail]
- BPES syndrome [MedDRA Preferred Term]
- Blepharophimosis epicanthus inversus ptosis syndrome (disorder) [SNOMED CT concept]
- Blepharophimosis syndrome (disorder) [SNOMED CT concept]
- Blepharophimosis, ptosis, and epicanthus inversus [OMIM Phenotype]
- Blepharophimosis, ptosis, and epicanthus inversus syndrome [MedDRA LLT]
- Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome [ORDO Disease]
- Blepharophimosis-ptosis-epicanthus inversus syndrome [ORDO Disease]
- blepharophimosis syndrome [SNOMED Notion]
- blepharophimosis, ptosis, and epicanthus inversus syndrome [DO Concept]

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