homocystinuria, nos

Preferred Label : homocystinuria, nos;

Details

Origin ID

D6-B4100;

UMLS CUI

C0019880;

Currated CISMeF NLP mapping
- Classic homocystinuria [ORDO Disease]
- Congenital glaucoma associated with homocystinuria [ICD-11 More detail]
- Homocystinuria [PASCAL descriptor]
- Homocystinuria [NCIt concept]
- Homocystinuria [MedDRA Preferred Term]
- Homocystinuria [HPO term]
- Homocystinuria (disorder) [SNOMED CT concept]
- homocystinuria [Disease (Nov.)]
- homocystinuria [DO Concept]
- homocystinuria [MeSH Descriptor]
- homocystinuria [MeSH concept]
ICD-10 exact mapping(s)
- Disorders of sulfur-bearing amino-acid metabolism [ICD-10 Sub-category (who)]
Manual BTNT mappings - CISMeF
- Methylcobalamin deficiency type cblE [ORDO Disease]
- Methylcobalamin deficiency type cblG [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder [ORDO Disease]
- Disorder of methionine cycle and sulfur amino acid metabolism [ORDO Disease]
Metaterm(s)
- metabolism [CISMeF Metaterm]
- pediatrics [CISMeF Metaterm]
SNOMED CT concept
- Homocystinuria (disorder) [SNOMED CT concept]
See also inter- (CISMeF)
- Cystathionine beta-synthase deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital glaucoma associated with homocystinuria [ICD-11 More detail]
- Homocystinuria [HPO term]
- Homocystinuria [PASCAL descriptor]
- Homocystinuria [NCIt concept]
- Homocystinuria [MedDRA Preferred Term]
- Homocystinuria (disorder) [SNOMED CT concept]
- homocystinuria [MeSH concept]
- homocystinuria [Disease (Nov.)]
- homocystinuria [DO Concept]
- homocystinuria [MeSH Descriptor]
Validated automatic mappings to BTNT
- Classical homocystinuria [ICD-11 More detail]
- cystathionine beta synthase deficiency [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients