Blepharophimosis - epicanthus inversus - ptosis

Preferred Label : Blepharophimosis - epicanthus inversus - ptosis;

ICD-11 definition : Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare genetic condition characterized by blepharophimosis (general reduction of palpebral aperture), ptosis, telecanthus (increased distance between inner canthi), epicanthus inversus (a skin fold arising in the lower eyelid and extending upwards, partially covering the inner canthus). Two subtypes of BPES are observed. In type 1, palpebral anomalies are associated with female infertility due to ovarian failure and premature menopause. In type 2, only palpebral anomalies are observed.;

ICD-11 synonym : BPES syndrome; BPES - [Blepharophimosis - epicanthus inversus - ptosis] syndrome;

Détails

Origin ID

1374618555;

Currated CISMeF NLP mapping
- 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-ptosis-epicanthus inversus syndrome [ORDO Disease]
- blepharophimosis syndrome [SNOMED Notion]
- blepharophimosis syndrome type 1 [MeSH Supplementary Concept]
- blepharophimosis syndrome type 2 [MeSH Supplementary Concept]
- blepharophimosis, ptosis, and epicanthus inversus [MeSH Supplementary Concept]
- blepharophimosis, ptosis, and epicanthus inversus [MeSH concept]
- blepharophimosis, ptosis, and epicanthus inversus syndrome [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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