microphthalmia, syndromic 1

Preferred Label : microphthalmia, syndromic 1;

MeSH synonym : lenz microphthalmia syndrome; microphthalmia or anophthalmos with associated anomalies (formerly); lenz dysplasia; MCOPS1; microphthalmia or anophthalmos with associated anomalies; lenz dysmorphogenic syndrome; lenz syndrome; MCOPS4; Microphthalmia With Ankyloblepharon And Mental Retardation; Microphthalmia, Syndromic 4;

Is substance : O;

Details

Origin ID

C537464;

UMLS CUI

C0796016;

CISMeF manual mappings
- Microphthalmia, Lenz type [ORDO Disease]
Currated CISMeF NLP mapping
- Microphthalmia, syndromic 1 [OMIM Phenotype]
MeSH term(s) associated for indexing
- anophthalmos [MeSH Descriptor]
- microphthalmos [MeSH Descriptor]
Record concept(s)
- Microphthalmia, syndromic 1 [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Lenz microphthalmia syndrome (disorder) [SNOMED CT concept]
- Microphthalmia, Lenz type [ORDO Disease]
- Microphthalmia, syndromic 1 [OMIM Phenotype]

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