microphthalmia, syndromic 7

Preferred Label : microphthalmia, syndromic 7;

MeSH synonym : microphthalmia, dermal aplasia, and sclerocornea; microphthalmia with linear skin defects; MCOPS7; midas syndrome; Syndromic Microphthalmia-7; Microphthalmia with Linear Skin Defects Syndrome; Microphthalmia with Linear Skin Lesions Syndrome; Linear skin defects with multiple congenital anomalies 1;

Details

Origin ID

C537466;

UMLS CUI

C0796070;

Automatic exact mappings (from CISMeF team)
- HCCS wt Allele [NCIt concept]
- Microphthalmia, dermal aplasia, and sclerocornea syndrome [ICD-11 More detail]
- linear skin defects with multiple congenital anomalies 1 [DO Concept]
CISMeF manual mappings
- Microphthalmia with linear skin defects syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Linear skin defects with multiple congenital anomalies 1 [OMIM Phenotype]
- MIDAS syndrome [PASCAL descriptor]
- Microphthalmia with linear skin defect syndrome (disorder) [SNOMED CT concept]
- microphthalmia with linear skin defects [Disease (Nov.)]
DO Cross reference
- linear skin defects with multiple congenital anomalies 1 [DO Concept]
MeSH term(s) associated for indexing
- genetic diseases, X-linked [MeSH Descriptor]
- microphthalmos [MeSH Descriptor]
- skin abnormalities [MeSH Descriptor]
Record concept(s)
- Microphthalmia, syndromic 7 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Linear skin defects with multiple congenital anomalies 1 [OMIM Phenotype]
- MIDAS syndrome [PASCAL descriptor]
- Microphthalmia with linear skin defect syndrome (disorder) [SNOMED CT concept]
- Microphthalmia with linear skin defects syndrome [ORDO Disease]
- microphthalmia with linear skin defects [Disease (Nov.)]

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