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;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0564819;

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]
Related record
- Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia [MeSH Supplementary 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]

Keyword's position in hierarchy(ies) :

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