CAD-CDG - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation

Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation (disorder)

active

Code	`1237417007`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20220930

Synonyms

Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation
Carbohydrate deficient glycoprotein syndrome type Iz
Congenital disorder of glycosylation type 1z

Parents (9)

85995004Autosomal recessive hereditary disorder disorder
277893002Carbohydrate-deficient glycoprotein syndrome type I disorder
1275631007Developmental and epileptic encephalopathy disorder
363070008Developmental hereditary disorder disorder
224958001Global developmental delay disorder
414393003Hereditary disorder of cellular element of blood disorder
128190004Inherited metabolic disorder of nervous system disorder
1137472008Neurodevelopmental delay disorder
300980002Normocytic anaemia disorder

Children (0)

None (leaf concept).