microphthalmia, syndromic 2

Preferred Label : microphthalmia, syndromic 2;

MeSH synonym : microphthalmia, cataracts, radiculomegaly, and septal heart defects; MCOPS2; Marashi Gorlin syndrome; OFCD Syndrome; Oculo facio cardio dental syndrome; Oculofaciocardiodental syndrome; Cataracts, microphthalmia, radiculomegaly and septal heart defects;

Details

Origin ID

C537465;

UMLS CUI

C1846265;

Currated CISMeF NLP mapping
- Microphthalmia, syndromic 2 [OMIM Phenotype]
- Oculo facio cardio dental syndrome [PASCAL descriptor]
- Oculofaciocardiodental syndrome [ORDO Disease]
- Oculofaciocardiodental syndrome (disorder) [SNOMED CT concept]
DO Cross reference
- syndromic microphthalmia 2 [DO Concept]
MeSH term(s) associated for indexing
- cataract [MeSH Descriptor]
- heart septal defects [MeSH Descriptor]
- microphthalmos [MeSH Descriptor]
ORDO relation(s)
- Oculofaciocardiodental syndrome [ORDO Disease]
Record concept(s)
- Microphthalmia, syndromic 2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microphthalmia, syndromic 2 [OMIM Phenotype]
- Oculo facio cardio dental syndrome [PASCAL descriptor]
- Oculofaciocardiodental syndrome [ORDO Disease]
- Oculofaciocardiodental syndrome (disorder) [SNOMED CT concept]
- syndromic microphthalmia 2 [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients