Hyperlysinuria with hyperammonemia

Preferred Label : Hyperlysinuria with hyperammonemia;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Hyperlysinemia, periodic;

Inheritance : ? Autosomal recessive;

Prefixed ID : 238750;

Détails

Origin ID

238750;

UMLS CUI

C0268555;

Automatic exact mappings (from CISMeF team)
- Periodic hyperlysinemia (disorder) [SNOMED CT concept]
- Periodic hyperlysinemia with hyperammonemia (disorder) [SNOMED CT concept]
- hyperlysinemia, periodic [MeSH concept]
- hyperlysinemias [MeSH Descriptor]
- periodic hyperlysinemia [SNOMED Notion]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Coma [HPO term]
- Dibasicaminoaciduria [HPO term]
- Growth delay [HPO term]
- Hyperammonemia [HPO term]
- Hyperlysinemia [HPO term]
- Hyperlysinuria [HPO term]
- Intellectual disability [HPO term]
- Lethargy [HPO term]
- Malabsorption [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Periodic hyperlysinemia (disorder) [SNOMED CT concept]
- Periodic hyperlysinemia with hyperammonemia (disorder) [SNOMED CT concept]
- hyperlysinemia, periodic [MeSH concept]
- periodic hyperlysinemia [SNOMED Notion]

Position du mot-clé dans l'(les) arborescence(s) :

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