Lysinuric protein intolerance
http://www.orpha.net/ORDO/Orphanet_470
Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.
Synonyms: Hyperdibasic aminoaciduria type 2, LPI
Term info
database cross reference
- MedDRA:10058300 (E (exact mapping (the terms and the concepts are equivalent)))
- OMIM:222700 (E (exact mapping (the terms and the concepts are equivalent)))
- UMLS:C0268647 (E (exact mapping (the terms and the concepts are equivalent)))
- ICD-10:E72.0 (Attributed)
- ICD-10:E72.0 (NTBT (narrower term maps to a broader term))
definition citation
orphanet
hasDbXref
OMIM:222700, UMLS:C0268647, ICD-10:E72.0, MedDRA:10058300
notation
ORPHA:470
Term relations
Subclass of:
- disease
- present_in some Europe and has_birth_prevalence_range some 1-9 / 100 000
- present_in some Worldwide and has_point_prevalence_range some Unknown_epidemiological_range
- present_in some Finland and has_birth_prevalence_range some 1-9 / 100 000 and has_birth_prevalence_average_value value 1.7
- present_in some Italy and has_birth_prevalence_range some 1-9 / 100 000 and has_birth_prevalence_average_value value 1.7
- part_of some Disorder of amino acid absorption and transport
- has_age_of_onset some infancy
- present_in some Japan and has_birth_prevalence_range some 1-9 / 100 000 and has_birth_prevalence_average_value value 1.75
- has_age_of_onset some neonatal