Afibrinogenemia, congenital

Preferred Label : Afibrinogenemia, congenital;

Type : Phenotype, molecular basis known;

Included titles and symbols : Hypofibrinogenemia, congenital;

Inheritance : Autosomal recessive;

Prefixed ID : #202400;

Details

Origin ID

202400;

UMLS CUI

C2584774;

Automatic exact mappings (from CISMeF team)
- afibrinogenemia [MeSH Descriptor]
- congenital afibrinogenemia [DO Concept]
- congenital afibrinogenemia [MeSH concept]
Currated CISMeF NLP mapping
- Congenital fibrinogen deficiency [ORDO Disease]
- Congenital hypofibrinogenaemia [MedDRA LLT]
- Congenital hypofibrinogenemia [MedDRA LLT]
- Congenital hypofibrinogenemia (disorder) [SNOMED CT concept]
- Familial dysfibrinogenemia [ORDO Disease]
- Familial hypodysfibrinogenemia [ORDO Disease]
- Familial hypofibrinogenemia [ORDO Disease]
- congenital fibrinogen deficiency [Disease (Nov.)]
DO Cross reference
- congenital afibrinogenemia [DO Concept]
Genes related to phenotype
- Fibrinogen, a alpha polypeptide [OMIM gene]
- Fibrinogen, b beta polypeptide [OMIM gene]
- Fibrinogen, g gamma polypeptide [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Autosomal recessive inheritance [HPO term]
- Hypofibrinogenemia [HPO term]
- Splenic rupture [HPO term]
Narrower ORDO disease(s)
- Familial hypofibrinogenemia [ORDO Disease]
ORDO concept(s)
- Congenital fibrinogen deficiency [ORDO Disease]
- Familial afibrinogenemia [ORDO Disease]
- Familial hypofibrinogenemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital afibrinogenemia (disorder) [SNOMED CT concept]
- Congenital hypofibrinogenaemia [MedDRA LLT]
- Congenital hypofibrinogenemia [MedDRA LLT]
- Congenital hypofibrinogenemia (disorder) [SNOMED CT concept]
- Familial afibrinogenemia [ORDO Disease]
- Familial hypofibrinogenemia [ORDO Disease]
Validated automatic mappings to BTNT
- Congenital afibrinogenemia (disorder) [SNOMED CT concept]
- Familial afibrinogenemia [ORDO Disease]
Validated automatic mappings to NTBT
- Hereditary deficiency of other clotting factors [ICD-10 Sub-category]

Keyword's position in hierarchy(ies) :

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