Hyper-beta-alaninemia

Preferred Label : Hyper-beta-alaninemia;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : HYPERALANINEMIA;

Inheritance : Autosomal recessive;

Prefixed ID : 237400;

Details

Origin ID

237400;

UMLS CUI

C0268630;

Automatic exact mappings (from CISMeF team)
- Hyperbeta-alaninemia [HPO term]
Currated CISMeF NLP mapping
- Hyper-Beta-Alaninemia [MeSH concept]
- Hyper-Beta-Alaninemia [MeSH Supplementary Concept]
- Hyper-beta-alaninaemia [ICD-11 More detail]
- Hyper-beta-alaninemia [ORDO Disease]
- Hyper-beta-alaninemia (disorder) [SNOMED CT concept]
- Hyperalaninemia [CISMeF Querying Strategy]
- Hyperalaninemia [PASCAL descriptor]
- Hyperalaninemia [HPO term]
- hyper-beta-alaninemia [SNOMED Notion]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Excessive daytime somnolence [HPO term]
- Failure to thrive [HPO term]
- Hyperbeta-alaninemia [HPO term]
- Increased urinary taurine [HPO term]
- Neonatal respiratory distress [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Hyper-beta-alaninemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyper-Beta-Alaninemia [MeSH Supplementary Concept]
- Hyper-Beta-Alaninemia [MeSH concept]
- Hyper-beta-alaninaemia [ICD-11 More detail]
- Hyper-beta-alaninemia [ORDO Disease]
- Hyper-beta-alaninemia (disorder) [SNOMED CT concept]
- Hyperalaninemia [HPO term]
- hyper-beta-alaninemia [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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