Bladder exstrophy and epispadias complex

Preferred Label : Bladder exstrophy and epispadias complex;

Symbol : BEEC;

CISMeF acronym : BEEC;

Type : Phenotype or locus, molecular basis unknown;

Included titles and symbols : Exstrophy of bladder;

Description : Bladder exstrophy and epispadias complex (BEEC) is an anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia (Gearhart and Jeffs, 1998). BEEC is one of the most severe urologic birth defects because of its profound impact on continence, sexual function, and morbidity due to the effect of chronic and recurrent infections on renal function. The term 'exstrophy,' derived from the Greek work ekstriphein, which literally means 'turn inside out,' was first used by Chaussier in 1780. Martinez-Frias et al. (2001) emphasized that exstrophy of the cloaca and exstrophy of the bladder are 2 different expressions of a primary developmental field defect. Cloacal exstrophy is a feature of the OEIS (omphalocele-exstrophy-imperforate anus-spinal defects) complex (258040). Exstrophy of the cloaca includes the persistence and exstrophy of a common cloaca that receives ureters, ileum, and a rudimentary hindgut and is associated with failure of fusion of the genital tubercles and pubic rami, incomplete development of the lumbosacral vertebrae with spinal dysraphism, imperforate anus, cryptorchidism and epispadias in males and anomalies of the mullerian duct derivatives in females, and a wide range of urinary tract anomalies. Omphalocele is common, and most patients have a single umbilical artery.;

Inheritance : Autosomal dominant;

Prefixed ID : %600057;

Details

Origin ID

600057;

UMLS CUI

C1838703;

Automatic exact mappings (from CISMeF team)
- Isolated epispadias [ORDO Disease]
Currated CISMeF NLP mapping
- Bladder Exstrophy [NCIt concept]
- Bladder exstrophy [MedDRA LLT]
- Bladder exstrophy [ORDO Disease]
- Bladder exstrophy [HPO term]
- Congenital ectopic bladder [MedDRA Preferred Term]
- Exstrophy epispadias complex (disorder) [SNOMED CT concept]
- Exstrophy of bladder sequence (disorder) [SNOMED CT concept]
- Exstrophy of urinary bladder [MedDRA LLT]
- Exstrophy of urinary bladder [ICD-10 Sub-category]
- Exstrophy of urinary bladder [ICD-11 Subcategory]
- Exstrophy-epispadias complex [ORDO Disease]
- bladder exstrophy [Disease (Nov.)]
- bladder exstrophy [MeSH Descriptor]
- bladder exstrophy [MeSH concept]
- bladder exstrophy [DO Concept]
- bladder exstrophy and epispadias complex [Disease (Nov.)]
- bladder exstrophy and epispadias complex [MeSH concept]
- bladder exstrophy and epispadias complex [MeSH Supplementary Concept]
- bladder exstrophy-epispadias-cloacal exstrophy complex [DO Concept]
- exstrophy of bladder sequence [SNOMED Notion]
DO Cross reference
- bladder exstrophy [DO Concept]
HPO term(s)
- Abnormality of pelvic girdle bone morphology [HPO term]
- Anteriorly placed anus [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid clitoris [HPO term]
- Bladder exstrophy [HPO term]
- Epispadias [HPO term]
- Horseshoe kidney [HPO term]
- Hydroureter [HPO term]
- Inguinal hernia [HPO term]
- Unilateral renal agenesis [HPO term]
ORDO concept(s)
- Bladder exstrophy [ORDO Disease]
- Exstrophy-epispadias complex [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bladder Exstrophy [NCIt concept]
- Bladder exstrophy [ORDO Disease]
- Bladder exstrophy [MedDRA LLT]
- Bladder exstrophy [HPO term]
- Congenital ectopic bladder [MedDRA Preferred Term]
- Ectopic bladder congenital [MedDRA LLT]
- Exstrophy epispadias complex (disorder) [SNOMED CT concept]
- Exstrophy of bladder sequence (disorder) [SNOMED CT concept]
- Exstrophy of urinary bladder [ICD-9 code]
- Exstrophy of urinary bladder [MedDRA LLT]
- Exstrophy of urinary bladder [ICD-10 Sub-category]
- Exstrophy of urinary bladder [ICD-11 Subcategory]
- Exstrophy-epispadias complex [ORDO Disease]
- bladder exstrophy [MeSH Descriptor]
- bladder exstrophy [MeSH concept]
- bladder exstrophy [DO Concept]
- bladder exstrophy [Disease (Nov.)]
- bladder exstrophy and epispadias complex [MeSH concept]
- bladder exstrophy and epispadias complex [MeSH Supplementary Concept]
- bladder exstrophy and epispadias complex [Disease (Nov.)]
- exstrophy of bladder sequence [SNOMED Notion]

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