Hyperthyroxinemia, familial dysalbuminemic

Preferred Label : Hyperthyroxinemia, familial dysalbuminemic;

Symbol : FDAH;

CISMeF acronym : FDAH; FDH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Euthyroid hyperthyroxinemia 1; FDH;

Included titles and symbols : Hypertriiodothyroninemia, familial dysalbuminemic;

Prefixed ID : #615999;

Détails

Origin ID

615999;

UMLS CUI

C0342185;

Automatic exact mappings (from CISMeF team)
- focal dermal hypoplasia [DO Concept]
CISMeF manual mappings
- hyperthyroxinemia, familial dysalbuminemic [MeSH concept]
Currated CISMeF NLP mapping
- Familial Dysalbuminemic Hyperthyroidism [NCIt concept]
- Familial dysalbuminemic hyperthyroxinemia [ORDO Disease]
- Familial dysalbuminemic hyperthyroxinemia [PASCAL descriptor]
- Familial dysalbuminemic hyperthyroxinemia (disorder) [SNOMED CT concept]
- familial dysalbuminaemic hyperthyroxinaemia [Disease (Nov.)]
- hyperthyroxinemia, familial dysalbuminemic [MeSH Descriptor]
Genes related to phenotype
- Albumin [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Euthyroid hyperthyroxinemia [HPO term]
- Increased circulating free T4 level [HPO term]
Not associated HPO term(s)
- Abnormal circulating free T4 level [HPO term]
- Abnormal thyroid-stimulating hormone level [HPO term]
See also inter- (CISMeF)
- Analbuminemia (finding) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial Dysalbuminemic Hyperthyroidism [NCIt concept]
- Familial dysalbuminemic hyperthyroxinemia [ORDO Disease]
- Familial dysalbuminemic hyperthyroxinemia [PASCAL descriptor]
- Familial dysalbuminemic hyperthyroxinemia (disorder) [SNOMED CT concept]
- familial dysalbuminaemic hyperthyroxinaemia [Disease (Nov.)]
- hyperthyroxinemia, familial dysalbuminemic [MeSH Descriptor]
- hyperthyroxinemia, familial dysalbuminemic [MeSH concept]

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