macrosomia with lethal microphthalmia

Preferred Label : macrosomia with lethal microphthalmia;

CISMeF synonym : macrosomia microphthalmia cleft palate;

MeSH synonym : macrosomia with microphthalmia, lethal;

Related MeSH term : Teebi Al-Saleh Hassoon syndrome;

Details

Origin ID

C537830;

UMLS CUI

C1855467;

Automatic exact mappings (from CISMeF team)
- Macrosomia with microphthalmia, lethal [OMIM Phenotype]
CISMeF manual mappings
- Macrosomia-microphthalmia-cleft palate syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Macrosomia, microphthalmia, cleft palate syndrome (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- cleft palate [MeSH Descriptor]
- fetal macrosomia [MeSH Descriptor]
- microphthalmos [MeSH Descriptor]
Record concept(s)
- Macrosomia microphthalmia cleft palate [MeSH concept]
- Macrosomia with lethal microphthalmia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Macrosomia with microphthalmia, lethal [OMIM Phenotype]
- Macrosomia-microphthalmia-cleft palate syndrome [ORDO Disease]

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