Dysfibrinogenemia, congenital

Preferred Label : Dysfibrinogenemia, congenital;

Type : Phenotype, molecular basis known;

Included titles and symbols : Hypodysfibrinogenemia, congenital;

Prefixed ID : #616004;

Details

Origin ID

616004;

UMLS CUI

C0272350;

Automatic exact mappings (from CISMeF team)
- Congenital dysfibrinogenaemia [MedDRA Preferred Term]
- Congenital dysfibrinogenemia [MedDRA LLT]
- Hereditary deficiency of other clotting factors [ICD-10 Sub-category]
- Hereditary dysfibrinogenemia (disorder) [SNOMED CT concept]
- congenital dysfibrinogenemia, nos [SNOMED Notion]
- dysfibrinogenemia, congenital [MeSH concept]
- dysfibrinogenemia, congenital [MeSH Supplementary Concept]
- hypodysfibrinogenemia, congenital [MeSH Supplementary Concept]
- hypodysfibrinogenemia, congenital [MeSH concept]
Genes related to phenotype
- Fibrinogen, a alpha polypeptide [OMIM gene]
- Fibrinogen, b beta polypeptide [OMIM gene]
- Fibrinogen, g gamma polypeptide [OMIM gene]
ORDO concept(s)
- Congenital fibrinogen deficiency [ORDO Disease]
- Familial dysfibrinogenemia [ORDO Disease]
- Familial hypodysfibrinogenemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital dysfibrinogenaemia [MedDRA Preferred Term]
- Congenital dysfibrinogenemia [MedDRA LLT]
- Familial dysfibrinogenemia [ORDO Disease]
- Familial hypodysfibrinogenemia [ORDO Disease]
- Hereditary dysfibrinogenemia (disorder) [SNOMED CT concept]
- congenital dysfibrinogenemia, nos [SNOMED Notion]
- dysfibrinogenemia, congenital [MeSH concept]
- dysfibrinogenemia, congenital [MeSH Supplementary Concept]

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