macrosomia obesity macrocephaly ocular abnormalities

Preferred Label : macrosomia obesity macrocephaly ocular abnormalities;

MeSH synonym : macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus); MOMO syndrome; macrosomia, obesity, macrocephaly, and ocular abnormalities;

Détails

Origin ID

C535812;

UMLS CUI

C1834759;

Currated CISMeF NLP mapping
- MOMO syndrome [ORDO Disease]
- Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) [SNOMED CT concept]
- Macrosomia - obesity - macrocephaly - ocular abnormalities [ICD-11 More detail]
- Momo syndrome [OMIM Phenotype]
MeSH term(s) associated for indexing
- Megalencephaly [MeSH Descriptor]
- abnormalities, multiple [MeSH Descriptor]
- coloboma [MeSH Descriptor]
- fetal macrosomia [MeSH Descriptor]
- head [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- obesity [MeSH Descriptor]
Record concept(s)
- Macrosomia obesity macrocephaly ocular abnormalities [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- MOMO syndrome [ORDO Disease]
- Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) [SNOMED CT concept]
- Macrosomia - obesity - macrocephaly - ocular abnormalities [ICD-11 More detail]
- Momo syndrome [OMIM Phenotype]

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