karandikar maria kamble syndrome

Preferred Label : karandikar maria kamble syndrome;

MeSH synonym : cataract mental retardation anal atresia urinary defects; congenital cataract with multiple congenital anomalies in a sibship;

Details

Origin ID

C537009;

UMLS CUI

C2931391;

Currated CISMeF NLP mapping
- Cataract-intellectual disability-anal atresia-urinary defects syndrome [ORDO Disease]
- Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- anus, imperforate [MeSH Descriptor]
- cataract [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
Record concept(s)
- Karandikar Maria Kamble syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cataract-intellectual disability-anal atresia-urinary defects syndrome [ORDO Disease]
- Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) [SNOMED CT concept]

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