finnish lethal neonatal metabolic syndrome

Preferred Label : finnish lethal neonatal metabolic syndrome;

MeSH note : Growth Retardation, Aminoaciduria, Cholestasis, Iron overload, Lactic acidosis, and Early death;

CISMeF acronym : GRACILE;

MeSH synonym : GRACILE syndrome; fellman syndrome; finnish, lactic acidosis with hepatic hemosiderosis; lactic acidosis, finnish, with hepatic hemosiderosis;

Details

Origin ID

C537934;

UMLS CUI

C1864002;

Automatic exact mappings (from CISMeF team)
- BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone [ORDO Gene]
- BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone [HGNC gene]
- GRACILE - [Growth delay - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death] syndrome [ICD-11 More detail]
- GRACILE syndrome [MedDRA Preferred Term]
- GRACILE syndrome [DO Concept]
Currated CISMeF NLP mapping
- GRACILE syndrome [Disease (Nov.)]
- GRACILE syndrome [ORDO Disease]
- Gracile syndrome [OMIM Phenotype]
- Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death (disorder) [SNOMED CT concept]
DO Cross reference
- GRACILE syndrome [DO Concept]
MeSH term(s) associated for indexing
- acidosis, lactic [MeSH Descriptor]
- cholestasis [MeSH Descriptor]
- fetal growth retardation [MeSH Descriptor]
- hemosiderosis [MeSH Descriptor]
- metabolism, inborn errors [MeSH Descriptor]
- mitochondrial diseases [MeSH Descriptor]
- renal aminoacidurias [MeSH Descriptor]
ORDO relation(s)
- GRACILE syndrome [ORDO Disease]
Record concept(s)
- finnish lethal neonatal metabolic syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- GRACILE syndrome [ORDO Disease]
- GRACILE syndrome [Disease (Nov.)]
- GRACILE syndrome [MedDRA Preferred Term]
- GRACILE syndrome [DO Concept]
- Gracile syndrome [OMIM Phenotype]
- Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death (disorder) [SNOMED CT concept]

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