knobloch syndrome

Preferred Label : knobloch syndrome;

CISMeF synonym : knobloch syndrome, type I;

MeSH synonym : retinal detachment occipital encephalocele; Passos-Bueno syndrome; retinal detachment and occipital encephalocele;

Details

Origin ID

C537209;

UMLS CUI

C1849409;

Automatic exact mappings (from CISMeF team)
- Knobloch syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Knobloch syndrome [Disease (Nov.)]
- Knobloch syndrome [ORDO Disease]
- Knobloch syndrome 1 [OMIM Phenotype]
- Retinal detachment and occipital encephalocele (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- encephalocele [MeSH Descriptor]
- retinal degeneration [MeSH Descriptor]
- retinal detachment [MeSH Descriptor]
ORDO relation(s)
- Knobloch syndrome [ORDO Disease]
Record concept(s)
- Knobloch Syndrome, Type I [MeSH concept]
- Knobloch syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Knobloch syndrome [ORDO Disease]
- Knobloch syndrome [Disease (Nov.)]
- Knobloch syndrome 1 [OMIM Phenotype]
- Retinal detachment and occipital encephalocele (disorder) [SNOMED CT concept]

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