3q23 deletion - CISMeF

Preferred Label : 3q23 deletion;

ICD-11 definition : Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES, which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay.;

ICD-11 synonym : BPES syndrome due to 3q23 microdeletion; Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion;

Details

Origin ID

249272729;

UMLS CUI

C0220663;

CISMeF manual mappings
- Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome [ORDO Disease]
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, ptosis, and epicanthus inversus [MeSH Supplementary Concept]
- blepharophimosis, ptosis, and epicanthus inversus [MeSH concept]
- blepharophimosis, ptosis, and epicanthus inversus syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 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 [MeSH concept]
- blepharophimosis, ptosis, and epicanthus inversus [MeSH Supplementary Concept]
- blepharophimosis, ptosis, and epicanthus inversus syndrome [DO Concept]
Validated automatic mappings to BTNT
- blepharophimosis syndrome type 1 [MeSH Supplementary Concept]
- blepharophimosis syndrome type 2 [MeSH Supplementary Concept]

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