lysinuric protein intolerance

Preferred Label : lysinuric protein intolerance;

MeSH note : mutations in SLC7A7;

MeSH synonym : dibasic amino aciduria II; Hyperdibasic Aminoaciduria; LPI - Lysinuric Protein Intolerance;

Details

Origin ID

C562687;

UMLS CUI

C0268647;

Currated CISMeF NLP mapping
- Hyperdibasic aminoaciduria type 2 [ICD-11 More detail]
- Lysinuric Protein Intolerance [NCIt concept]
- Lysinuric protein intolerance [ICD-11 More detail]
- Lysinuric protein intolerance [MedDRA Preferred Term]
- Lysinuric protein intolerance [OMIM Phenotype]
- Lysinuric protein intolerance [ORDO Disease]
- Lysinuric protein intolerance (disorder) [Inactive SNOMED CT concept]
- Lysinuric protein intolerance (disorder) [SNOMED CT concept]
- lysinuric protein intolerance [DO Concept]
- lysinuric protein intolerance [Disease (Nov.)]
- lysinuric protein intolerance, nos [SNOMED Notion]
DO Cross reference
- lysinuric protein intolerance [DO Concept]
MeSH term(s) associated for indexing
- amino acid metabolism, inborn errors [MeSH Descriptor]
Record concept(s)
- lysinuric protein intolerance [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperdibasic aminoaciduria type 2 [ICD-11 More detail]
- Lysinuric Protein Intolerance [NCIt concept]
- Lysinuric protein intolerance [MedDRA Preferred Term]
- Lysinuric protein intolerance [ORDO Disease]
- Lysinuric protein intolerance [OMIM Phenotype]
- Lysinuric protein intolerance [ICD-11 More detail]
- Lysinuric protein intolerance (disorder) [SNOMED CT concept]
- lysinuric protein intolerance [DO Concept]
- lysinuric protein intolerance [Disease (Nov.)]
- lysinuric protein intolerance, nos [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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