homocystinuria

Preferred Label : homocystinuria;

MeSH definition : Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979);

MeSH hyponym : cystathionine beta-Synthase deficiency disease; Cystathionine beta Synthase Deficiency Disease; Cystathionine Beta Synthase Deficiency; Deficiency Disease, Cystathionine beta-Synthase; Deficiency Disease, Cystathionine beta Synthase; CBS Deficiency; CBS Deficiencies; Deficiencies, CBS; Deficiency, CBS;

Wikipedia link : https://en.wikipedia.org/wiki/Homocystinuria;

Details

Origin ID

D006712;

UMLS CUI

C0019880;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Disorders of sulfur-bearing amino-acid metabolism [ICD-10 Sub-category]
- Disorders of sulfur-bearing amino-acid metabolism [ICD-10 Sub-category (who)]
- Homocystinuria [ACR pathology]
- Homocystinuria [ACR pathology]
- Homocystinuria [ACR pathology]
Currated CISMeF NLP mapping
- Classic homocystinuria [ORDO Disease]
- Congenital glaucoma associated with homocystinuria [ICD-11 More detail]
- Cystathionine beta-synthase deficiency [MedDRA Preferred Term]
- Cystathionine beta-synthase deficiency (disorder) [SNOMED CT concept]
- Homocystinuria [PASCAL descriptor]
- Homocystinuria [HPO term]
- Homocystinuria [MedDRA Preferred Term]
- Homocystinuria [NCIt concept]
- Homocystinuria (disorder) [SNOMED CT concept]
- cystathionine beta synthase deficiency [Disease (Nov.)]
- cystathionine beta-synthase deficiency [SNOMED Notion]
- homocystinuria [DO Concept]
- homocystinuria [Disease (Nov.)]
- homocystinuria, nos [SNOMED Notion]
DO Cross reference
- homocystinuria [DO Concept]
HPO term
- Homocystinuria [HPO term]
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]
- Developmental anomaly of metabolic origin [ORDO Disease]
- Disorder of amino acid and other organic acid metabolism [ORDO Disease]
- Disorder of methionine cycle and sulfur amino acid metabolism [ORDO Disease]
- Lens position anomaly [ORDO Disease]
- Metabolic disease with cataract [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Rare disease with glaucoma as a major feature [ORDO Disease]
- Syndromic developmental defect of the eye [ORDO Disease]
Record concept(s)
- cystathionine beta-Synthase deficiency disease [MeSH concept]
- homocystinuria [MeSH concept]
Related MeSH Supplementary Concept(s)
- Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, CblE complementation type [MeSH Supplementary Concept]
- homocystinuria, Pyridoxine-Responsive [MeSH Supplementary Concept]
- methylenetetrahydrofolate reductase deficiency [MeSH Supplementary Concept]
- methylmalonic acidemia with homocystinuria [MeSH Supplementary Concept]
- mthfr deficiency, thermolabile type [MeSH Supplementary Concept]
See also
- 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase [MeSH Descriptor]
- cystathionine beta-Synthase [MeSH Descriptor]
See also (suggested by CISMeF)
- hyperhomocysteinemia [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital glaucoma associated with homocystinuria [ICD-11 More detail]
- Homocystinuria [MedDRA Preferred Term]
- Homocystinuria [HPO term]
- Homocystinuria [PASCAL descriptor]
- Homocystinuria [NCIt concept]
- Homocystinuria (disorder) [SNOMED CT concept]
- homocystinuria [DO Concept]
- homocystinuria [Disease (Nov.)]
- homocystinuria, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Classical homocystinuria [ICD-11 More detail]
- Homocystinuria due to cystathionine beta-synthase deficiency [OMIM Phenotype]

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