oculocerebrocutaneous syndrome

Preferred Label : oculocerebrocutaneous syndrome;

MeSH synonym : oculo-cerebro-cutaneous syndrome; orbital cyst with cerebral and focal dermal malformations; delleman syndrome;

Details

Origin ID

C538088;

UMLS CUI

C0796092;

Automatic exact mappings (from CISMeF team)
- Oculo-cerebro-cutaneous syndrome [ICD-11 More detail]
- Oculocerebrocutaneous syndrome [PASCAL descriptor]
Currated CISMeF NLP mapping
- Oculocerebrocutaneous syndrome [OMIM Phenotype]
- Oculocerebrocutaneous syndrome [ORDO Disease]
- Oculocerebrocutaneous syndrome (disorder) [SNOMED CT concept]
Has phenotype(s) (HPO)
- All cases sporadic [HPO term]
- Anophthalmia, clinical [HPO term]
- Isolated cases [HPO term]
MeSH term(s) associated for indexing
- central nervous system cysts [MeSH Descriptor]
- eye abnormalities [MeSH Descriptor]
- fingers [MeSH Descriptor]
- skin abnormalities [MeSH Descriptor]
ORDO relation(s)
- Oculocerebrocutaneous syndrome [ORDO Disease]
Record concept(s)
- Oculocerebrocutaneous syndrome [MeSH concept]
See also (suggested by CISMeF)
- leichtman wood rohn syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oculocerebrocutaneous syndrome [OMIM Phenotype]
- Oculocerebrocutaneous syndrome [MedDRA Preferred Term]
- Oculocerebrocutaneous syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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