microphthalmia, syndromic 3

Preferred Label : microphthalmia, syndromic 3;

MeSH note : PROM mutation in SOX2;

MeSH synonym : AEG syndrome; microphthalmia and esophageal atresia syndrome; MCOPS3; anophthalmia, clinical, with associated anomalies; Anophthalmia-Esophageal-Genital syndrome; syndromic microphthalmia 3; Sox2 anophthalmia syndrome; Sox2-Related eye disorders;

Details

Origin ID

C565948;

UMLS CUI

C1859773;

Automatic exact mappings (from CISMeF team)
- Anophthalmia or microphthalmia - oesophageal atresia [ICD-11 More detail]
- General health deterioration (finding) [SNOMED CT concept]
- syndromic microphthalmia 3 [DO Concept]
Currated CISMeF NLP mapping
- Anophthalmia-esophageal-genital syndrome syndrome [ORDO Disease]
- Anophthalmia/microphthalmia-esophageal atresia syndrome [ORDO Disease]
- Microphthalmia, syndromic 3 [OMIM Phenotype]
- SOX2 anophthalmia syndrome (disorder) [SNOMED CT concept]
DO Cross reference
- syndromic microphthalmia 3 [DO Concept]
MeSH term(s) associated for indexing
- esophageal atresia [MeSH Descriptor]
- microphthalmos [MeSH Descriptor]
- nervous system malformations [MeSH Descriptor]
Record concept(s)
- microphthalmia, syndromic 3 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Anophthalmia-esophageal-genital syndrome syndrome [ORDO Disease]
- Anophthalmia/microphthalmia-esophageal atresia syndrome [ORDO Disease]
- Microphthalmia, syndromic 3 [OMIM Phenotype]
- SOX2 anophthalmia syndrome (disorder) [SNOMED CT concept]
- syndromic microphthalmia 3 [DO Concept]

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