Hypoalphalipoproteinemia, primary, 2

Preferred Label : Hypoalphalipoproteinemia, primary, 2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Apolipoprotein a-I deficiency; High density lipoprotein deficiency; Hypoalphalipoproteinemia, primary, 2, autosomal recessive;

Prefixed ID : #618463;

Details

Origin ID

618463;

UMLS CUI

C5551172;

Automatic exact mappings (from CISMeF team)
- Hdl Deficiency, Type 2 [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Apolipoprotein A-I deficiency [ICD-11 More detail]
- Apolipoprotein A-I deficiency (disorder) [SNOMED CT concept]
Genes related to phenotype
- Apolipoprotein a-I [OMIM gene]
ORDO concept(s)
- Apolipoprotein A-I deficiency [ORDO Disease]
See also inter- (CISMeF)
- High density lipoprotein deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Apolipoprotein A-I deficiency (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- Apolipoprotein A-I deficiency [ORDO Disease]

Keyword's position in hierarchy(ies) :

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