Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia

Preferred Label : Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia;

CISMeF synonym : brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, Ear/Eye anomalies, cleft Palate/Cryptorchidism, and kidney Dysplasia/Hypoplasia;

MeSH synonym : bresheck syndrome; bresek syndrome;

Détails

Origin ID

C564519;

UMLS CUI

C3502469;

CISMeF manual mappings
- Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- BRESEK syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- brain [MeSH Descriptor]
- congenital abnormalities [MeSH Descriptor]
- ear [MeSH Descriptor]
- ectodermal dysplasia [MeSH Descriptor]
- genetic diseases, X-linked [MeSH Descriptor]
- hirschsprung disease [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- kidney [MeSH Descriptor]
Record concept(s)
- Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- BRESEK syndrome [ORDO Disease]
- Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder) [SNOMED CT concept]

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