Saccharopinuria

Preferred Label : Saccharopinuria;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Alpha-aminoadipic semialdehyde synthase deficiency; Saccharopine dehydrogenase deficiency; Hyperlysinemia, type II;

Inheritance : Autosomal recessive;

Prefixed ID : %268700;

Details

Origin ID

268700;

UMLS CUI

C0268556;

Automatic exact mappings (from CISMeF team)
- Hyperlysinemia (disorder) [SNOMED CT concept]
- hyperlysinemias [MeSH Descriptor]
Currated CISMeF NLP mapping
- Hyperlysinaemia type 2 [ICD-11 More detail]
- Saccharopinuria [MeSH concept]
- Saccharopinuria [ORDO Disease]
- Saccharopinuria (disorder) [SNOMED CT concept]
- saccharopinuria [MeSH Supplementary Concept]
- saccharopinuria [SNOMED Notion]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Citrullinuria [HPO term]
- EEG abnormality [HPO term]
- Elevated circulating sacchoropine concentration [HPO term]
- Histidinuria [HPO term]
- Hyperlysinuria [HPO term]
- Intellectual disability [HPO term]
- Saccharopinuria [HPO term]
- Short stature [HPO term]
- Spastic diplegia [HPO term]
ORDO concept(s)
- Saccharopinuria [ORDO Disease]
See also inter- (CISMeF)
- hyperlysinaemia [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Saccharopinuria [HPO term]
- Saccharopinuria (disorder) [SNOMED CT concept]
- saccharopine dehydrogenase deficiency disease [MeSH concept]
- saccharopinuria [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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