National Drug File - Reference Terminology - Homocystinuria [Disease/Finding] - Classes

Last uploaded: July 6, 2018

Id	http://purl.bioontology.org/ontology/NDFRT/N0000001552 http://purl.bioontology.org/ontology/NDFRT/N0000001552
Preferred Name	Homocystinuria [Disease/Finding]
Synonyms	Homocystinuria
Type	http://www.w3.org/2002/07/owl#Class

altLabel	Homocystinuria
prefLabel	Homocystinuria [Disease/Finding]
notation	N0000001552
May be treated by	http://purl.bioontology.org/ontology/NDFRT/N0000146448 http://purl.bioontology.org/ontology/NDFRT/N0000147725
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 UI	M0010516
subClassOf	http://purl.bioontology.org/ontology/NDFRT/N0000004169
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
MeSH name	Homocystinuria
NDFRT kind	DISEASE_KIND
type	http://www.w3.org/2002/07/owl#Class
SNOMED CID	11282001
tui	T047
NUI	N0000001552
cui	C0019880
MESH DUI	D006712

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