branchio-oto-renal syndrome

Preferred Label : branchio-oto-renal syndrome;

MeSH definition : An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed);

MeSH synonym : branchio-otorenal dysplasia; branchio-otorenal syndrome; bor syndrome; branchio oto renal syndrome; Melnick-Fraser syndrome; melnick fraser syndrome; branchiootorenal dysplasia; dysplasia, branchiootorenal;

CISMeF synonym : BOF syndromes; bor syndromes; branchio otorenal dysplasia; branchio otorenal syndrome; Branchio-Oculo-Facial syndromes; branchio-oto-renal syndromes; branchio-otorenal dysplasias; branchio-otorenal syndromes; branchiooculofacial syndromes; dysplasia, branchio-otorenal; dysplasias, branchio-otorenal; syndrome, branchio-otorenal; syndromes, BOF; syndromes, bor; syndromes, Branchio-Oculo-Facial; syndromes, branchio-oto-renal; syndromes, branchio-otorenal; syndromes, branchiooculofacial; branchiootorenal syndrome 1; syndrome, Melnick-Fraser; syndrome, bor; syndrome, branchio-oto-renal;

Related MeSH term : Branchiootorenal syndrome 2; Branchio-Oculo-Facial syndrome; Branchio Oculo Facial Syndrome; Syndrome, Branchio-Oculo-Facial; Branchial Clefts with Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, and Premature Aging; Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome; Lip Pseudocleft Hemangiomatous Branchial Cyst Syndrome; Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome; Hemangiomatous Branchial Clefts Lip Pseudocleft Syndrome; Lee Root Fenske Syndrome; BOF Syndrome; Syndrome, BOF; Branchiooculofacial Syndrome; Syndrome, Branchiooculofacial;

Wikipedia link : https://en.wikipedia.org/wiki/Branchio-oto-renal syndrome;

Details

Origin ID

D019280;

UMLS CUI

C0265234;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Borries' syndrome (disorder) [SNOMED CT concept]
- Branchiogenic syndrome [MedDRA Preferred Term]
- Branchiootorenal syndrome 2 [OMIM Phenotype]
- CHARGE syndrome [MedDRA Preferred Term]
- CHARGE syndrome [ORDO Disease]
- Charge syndrome [OMIM Phenotype]
- Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome (disorder) [SNOMED CT concept]
- Hyperinsulinism-hyperammonemia syndrome [ORDO Disease]
- LE syndrome [MedDRA LLT]
- Milles' syndrome [MedDRA LLT]
- Syndrome [NCIt concept]
- borries' syndrome [SNOMED Notion]
- branchiootorenal syndrome 1 [DO Concept]
- branchiootorenal syndrome 2 [DO Concept]
- charge association [SNOMED Notion]
- cluster headache [SNOMED Notion]
- disease, nos [SNOMED Notion]
Currated CISMeF NLP mapping
- BOR syndrome [ORDO Disease]
- Branchio-oculo-facial syndrome [ORDO Disease]
- Branchio-oto-renal syndrome [ICD-11 More detail]
- Branchio-oto-renal syndrome [MedDRA Preferred Term]
- Branchiooculofacial syndrome [OMIM Phenotype]
- Branchiooculofacial syndrome (disorder) [SNOMED CT concept]
- Branchiootorenal syndrome [MedDRA LLT]
- Branchiootorenal syndrome 1 [OMIM Phenotype]
- Melnick-Fraser Syndrome [NCIt concept]
- Melnick-Fraser syndrome [PASCAL descriptor]
- Melnick-Fraser syndrome (disorder) [SNOMED CT concept]
- branchio oto renal syndrome [Disease (Nov.)]
- branchiooculofacial syndrome [DO Concept]
- branchiootorenal syndrome [DO Concept]
- melnick-fraser syndrome [SNOMED Notion]
DO Cross reference
- branchiootorenal syndrome [DO Concept]
False automatic mappings
- CHARGE Syndrome [NCIt concept]
- Diethylstilbestrol syndrome [ORDO Disease]
- Orofacial clefting syndrome [ORDO Disease]
Indexing information
- NDUFB9 protein, human [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Branchial arch or oral-acral syndrome [ORDO Disease]
- Genetic branchial arch or oral-acral syndrome [ORDO Disease]
- Otomandibular dysplasia associated with monogenic syndromes [ORDO Disease]
- Syndrome or malformation associated with head and neck malformations [ORDO Disease]
- Syndromic genetic deafness [ORDO Disease]
- Syndromic renal or urinary tract malformation [ORDO Disease]
ORDO relation(s)
- BOR syndrome [ORDO Disease]
Record concept(s)
- Branchio-Oculo-Facial syndrome [MeSH concept]
- Branchio-Oto-Renal syndrome [MeSH concept]
- Branchiootorenal Syndrome 1 [MeSH concept]
- Branchiootorenal syndrome 2 [MeSH concept]
Related MeSH Supplementary Concept(s)
- Bor-Duane hydrocephalus contiguous gene syndrome [MeSH Supplementary Concept]
- branchiootic syndrome [MeSH Supplementary Concept]
- branchiootic syndrome 2 [MeSH Supplementary Concept]
- branchiootic syndrome 3 [MeSH Supplementary Concept]
- otofaciocervical syndrome [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Branchio-oculo-facial syndrome [ICD-11 More detail]
- branchiooculofacial syndrome [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- BOR syndrome [ORDO Disease]
- Branchio-oto-renal syndrome [MedDRA Preferred Term]
- Branchio-oto-renal syndrome [ICD-11 More detail]
- Branchiootorenal syndrome [MedDRA LLT]
- Branchiootorenal syndrome 1 [OMIM Phenotype]
- Melnick-Fraser Syndrome [NCIt concept]
- Melnick-Fraser syndrome (disorder) [SNOMED CT concept]
- branchio oto renal syndrome [Disease (Nov.)]
- branchiootorenal syndrome [DO Concept]
- melnick-fraser syndrome [SNOMED Notion]

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