Lesch-Nyhan syndrome

Lesch-Nyhan syndrome (disorder)

active

Code	`10406007`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20020131

Synonyms

Choreoathetosis self-mutilation syndrome
Complete HGPRT deficiency
Complete hypoxanthine-guanine phosphoribosyltransferase deficiency
HGPRT deficiency
HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency
Hypoxanthine-guanine phosphoribosyltransferase deficiency
Lesch-Nyhan disease
Total HGPRT deficiency
X-linked hyperuricaemia
X-linked hyperuricemia

Parents (3)

124275001Deficiency of hypoxanthine phosphoribosyltransferase disorder
35885006Hyperuricaemia disorder
1162976004X-linked recessive hereditary disease disorder

Children (0)

None (leaf concept).