Hereditary factor IX deficiency

ICD-11 code : 3B11;

Preferred Label : Hereditary factor IX deficiency;

ICD-11 definition : A disease caused by a genetically inherited X-linked recessive trait leading to a defective gene located on the X chromosome. This disease is characterised by low levels of the protein factor IX in the body leading to increased haemorrhaging and bruising due to clotting abnormalities. Confirmation is by identification of recessive trait by genetic testing.;

ICD-11 synonym : hereditary factor IX deficiency disease; congenital factor IX deficiency; congenital factor IX disorder; factor IX deficiency; factor 9 deficiency; intravascular clotting defect;

ICD-11 "other" category code : 3B11.Y;

ICD-11 "unspecified" category code : 3B11.Z;

Details

Origin ID

755266992;

UMLS CUI

C0008533;

Automatic exact mappings (from CISMeF team)
- Coagulation defect [ICPC-3 diagnosis]
- Factor IX deficiency (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Hemophilia b [OMIM Phenotype]
- Hereditary factor IX deficiency [ICD-10 category]
- Hereditary factor IX deficiency [ICD-10 category (who)]
- hemophilia B [MeSH Descriptor]
- hemophilia B [DO Concept]
- hemophilia B [Blood Transfusion thesaurus concept]
ICD-10 Mapping
- Hereditary factor IX deficiency [ICD-10 category]
See also inter- (CISMeF)
- Congenital factor IX disorder [ICD-9 code]
- Congenital factor IX disorder [MedDRA LLT]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Christmas disease (Factor IX) [MedDRA LLT]
- Congenital factor IX disorder [ICD-9 code]
- Congenital factor IX disorder [MedDRA LLT]
- Factor IX deficiency [MedDRA Preferred Term]
- Factor IX deficiency (disorder) [SNOMED CT concept]
- Haemophilia B [MedDRA LLT]
- Haemophilia B (Factor IX) [MedDRA LLT]
- Hemophilia B [NCIt concept]
- Hemophilia B [ORDO Disease]
- Hemophilia B [PASCAL descriptor]
- Hemophilia B [MedDRA LLT]
- Hemophilia B (Factor IX) [MedDRA LLT]
- Hemophilia b [OMIM Phenotype]
- Hereditary factor IX deficiency [ICD-10 category]
- Hereditary factor IX deficiency disease (disorder) [SNOMED CT concept]
- hemophilia B [DO Concept]
- hemophilia B [MeSH Descriptor]
- hemophilia B [MeSH concept]
- hemophilia B [Disease (Nov.)]
- hemophilia b, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Christmas disease (Factor IX) [MedDRA LLT]
- Haemophilia B (Factor IX) [MedDRA LLT]
- Hemophilia B [NCIt concept]
- Hemophilia B [ORDO Disease]
- Hemophilia B [PASCAL descriptor]
- Hemophilia B (Factor IX) [MedDRA LLT]
- Hereditary factor IX deficiency disease (disorder) [SNOMED CT concept]
- hemophilia B [Disease (Nov.)]
- hemophilia B [MeSH concept]
- hemophilia b, nos [SNOMED Notion]
Validated automatic mappings to NTBT
- Factor IX deficiency [MedDRA Preferred Term]
- hemophilia [MedlinePlus Topic]

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