Hemophilia a - CISMeF

Preferred Label : Hemophilia a;

Symbol : HEMA;

CISMeF acronym : HEMA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hemophilia, classic;

Description : Hemophilia A is an X-linked recessive bleeding disorder caused by a deficiency in the activity of coagulation factor VIII. The disorder is clinically heterogeneous with variable severity, depending on the plasma levels of coagulation factor VIII: mild, with levels 6 to 30% of normal; moderate, with levels 2 to 5% of normal; and severe, with levels less than 1% of normal. Patients with mild hemophilia usually bleed excessively only after trauma or surgery, whereas those with severe hemophilia have an annual average of 20 to 30 episodes of spontaneous or excessive bleeding after minor trauma, particularly into joints and muscles. These symptoms differ substantially from those of bleeding disorders due to platelet defects or von Willebrand disease (193400), in which mucosal bleeding predominates (review by Mannucci and Tuddenham, 2001).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutations in the coagulation factor VIII gene (F8, 306700.0001);

Laboratory abnormalities : PTT prolonged; PT normal; Factor VIII deficiency; Bleeding time normal; Platelet count normal; Platelet function normal;

Prefixed ID : #306700;

Details

Origin ID

306700;

UMLS CUI

C0019069;

Automatic exact mappings (from CISMeF team)
- 2-hydroxyethyl methacrylate [Substance BNPC]
- Bleeding disorder in hemophilia A carriers [ORDO Disease]
- F8 wt Allele [NCIt concept]
- Hemophilia [LOINC component]
- Hemophilia - specialty (qualifier value) [SNOMED CT concept]
- Mild hemophilia A [ORDO Disease]
- Moderate hemophilia A [ORDO Disease]
- N-Acetyl-S-(2-Hydroxyethyl)Cysteine [NCIt concept]
- Severe hemophilia A [ORDO Disease]
- coagulation factor VIII [ORDO Gene]
- coagulation factor VIII [HGNC gene]
- factor VIII deficiency [DO Concept]
- factor xi deficiency [MeSH Descriptor]
- hydroxyethyl methacrylate [MeSH concept]
- hydroxyethyl methacrylate [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Hemophilia [ORDO Disease]
Currated CISMeF NLP mapping
- Factor VIII deficiency (disorder) [SNOMED CT concept]
- Haemophilia [MedDRA Preferred Term]
- Haemophilia A [ICD-11 Subcategory]
- Haemophilia A [MedDRA LLT]
- Haemophilia NOS [MedDRA LLT]
- Hemophilia [PASCAL descriptor]
- Hemophilia [ORDO Disease]
- Hemophilia [MedDRA LLT]
- Hemophilia [NCIt concept]
- Hemophilia (disorder) [SNOMED CT concept]
- Hemophilia A [PASCAL descriptor]
- Hemophilia A [NCIt concept]
- Hemophilia A [ORDO Disease]
- Hemophilia A [MedDRA LLT]
- Hemophilia A (Factor VIII) [MedDRA LLT]
- Hemophilia B [PASCAL descriptor]
- Hereditary factor VIII deficiency [ICD-10 category]
- Hereditary factor VIII deficiency [ICD-10 category (who)]
- Hereditary factor VIII deficiency disease (disorder) [SNOMED CT concept]
- Reduced factor VIII activity [HPO term]
- factor VIII deficiency [MeSH concept]
- hemophilia [MedlinePlus Topic]
- hemophilia A [Disease (Nov.)]
- hemophilia A [Blood Transfusion thesaurus concept]
- hemophilia A [MeSH Descriptor]
- hemophilia A [MeSH concept]
- hemophilia a, nos [SNOMED Notion]
- hemophilia, nos [SNOMED Notion]
DO Cross reference
- factor VIII deficiency [DO Concept]
Genes related to phenotype
- Coagulation factor VIII [OMIM gene]
HPO term(s)
- Bruising susceptibility [HPO term]
- Hemarthroses [HPO term]
- Joint hemorrhage [HPO term]
- Muscle hemorrhage [HPO term]
- Osteoarthritis [HPO term]
- Persistent bleeding after trauma [HPO term]
- Prolonged partial thromboplastin time [HPO term]
- Reduced factor VIII activity [HPO term]
- X-linked recessive inheritance [HPO term]
Narrower ORDO disease(s)
- Bleeding disorder in hemophilia A carriers [ORDO Disease]
- Mild hemophilia A [ORDO Disease]
- Moderate hemophilia A [ORDO Disease]
- Severe hemophilia A [ORDO Disease]
Not associated HPO term(s)
- Petechiae [HPO term]
- Purpura [HPO term]
ORDO concept(s)
- Bleeding disorder in hemophilia A carriers [ORDO Disease]
- Hemophilia A [ORDO Disease]
- Mild hemophilia A [ORDO Disease]
- Moderate hemophilia A [ORDO Disease]
- Severe hemophilia A [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital factor VIII disorder [ICD-9 code]
- Congenital factor VIII disorder [MedDRA LLT]
- Haemophilia A [MedDRA LLT]
- Haemophilia A (Factor VIII) [MedDRA LLT]
- Hemophilia A [MedDRA LLT]
- Hemophilia A [NCIt concept]
- Hemophilia A (Factor VIII) [MedDRA LLT]
- Hereditary factor VIII deficiency [ICD-10 category (who)]
- Hereditary factor VIII deficiency [ICD-10 category]
- Hereditary factor VIII deficiency [ICD-11 Category]
- Hereditary factor VIII deficiency disease (disorder) [SNOMED CT concept]
- factor VIII deficiency [DO Concept]
- hemophilia A [MeSH Descriptor]
- hemophilia A [MeSH concept]
- hemophilia a, nos [SNOMED Notion]
Validated automatic mappings to NTBT
- hemophilia [Disease (Nov.)]

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