blepharophimosis, ptosis, and epicanthus inversus

Preferred Label : blepharophimosis, ptosis, and epicanthus inversus;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0562719;

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, 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]
MeSH narrower concept(s)
- blepharophimosis, ptosis, and epicanthus inversus type II [MeSH concept]
Related record
- blepharophimosis, ptosis, and epicanthus inversus [MeSH Supplementary 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]

Keyword's position in hierarchy(ies) :

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