meretoja syndrome

Preferred Label : meretoja syndrome;

MeSH note : PROM mutation in gelsolin;

CISMeF synonym : cerebral amyloid angiopathy, Gsn-Related;

MeSH synonym : meretoja's syndrome; lattice corneal dystrophy associated with familial systemic amyloidosis; lattice dystrophy of the cornea with hereditary generalized amyloidosis; finnish type amyloidosis; amyloid cranial neuropathy with lattice corneal dystrophy; amyloidosis, finnish type; amyloidosis, meretoja type; amyloidosis 5; amyloidosis due to mutant gelsolin; meretoja type amyloidosis; amyloidosis V;

MeSH hyponym : Lattice Corneal Dystrophy Type Ii; Lattice Corneal Dystrophy, Gelsolin Type; Familial Amyloidosis, Finnish Type; Gelsolin-Related Amyloidosis; Kymenlaakso Syndrome; Corneal Dystrophy, Lattice Type II; Familial Amyloid Polyneuropathy Type Iv;

Details

Origin ID

C537459;

UMLS CUI

C1622345;

Automatic exact mappings (from CISMeF team)
- AGel amyloidosis [ORDO Disease]
- Amyloidosis, finnish type [OMIM Phenotype]
- Corneal dystrophy, gelatinous drop-like [OMIM Phenotype]
- Corneal dystrophy, lattice type I [OMIM Phenotype]
- Familial amyloid neuropathy, Finnish type (disorder) [Inactive SNOMED CT concept]
- Finnish type amyloidosis [DO Concept]
- Lattice corneal dystrophy (disorder) [SNOMED CT concept]
- Lattice corneal dystrophy Type II (disorder) [SNOMED CT concept]
- gelsolin [ORDO Gene]
Currated CISMeF NLP mapping
- Meretoja syndrome (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- amyloidosis [MeSH Descriptor]
- corneal dystrophies, hereditary [MeSH Descriptor]
Record concept(s)
- Meretoja syndrome [MeSH concept]
- cerebral amyloid angiopathy, Gsn-Related [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- AGel amyloidosis [ICD-11 More detail]
- Amyloidosis, finnish type [OMIM Phenotype]
- Meretoja syndrome (disorder) [SNOMED CT concept]
Validated automatic mappings to BTNT
- AGel amyloidosis [ICD-11 More detail]
- Hereditary gelsolin amyloidosis (disorder) [SNOMED CT concept]
- lattice corneal dystrophy type II [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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