de Barsey syndrome

de Barsey syndrome (disorder)

active

Code	`59252009`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20020131

Synonyms

Autosomal recessive cutis laxa type III
Cutis laxa-corneal clouding-oligophrenia syndrome
Progeroid syndrome of de Barsey
de Barsey-Moens-Dierckx syndrome

Parents (14)

399269003Arthropathy disorder
58593005Athetoid movement finding
268160006Congenital corneal opacity disorder
59451000Cutis laxa, autosomal recessive disorder
37800003Disorder of proline AND/OR hydroxyproline metabolism disorder
111474003Fetal and/or neonatal disorder of integument disorder
1362108000Genetic intellectual disability disorder
363212003Hereditary disorder of musculoskeletal system disorder
363343008Hereditary disorder of the visual system disorder
86854008Hyperreflexia finding
298203008Joint laxity finding
65094009Multiple malformation syndrome with facial defects as major feature disorder
312225001Musculoskeletal and connective tissue disorder disorder
1137472008Neurodevelopmental delay disorder

Children (2)

1295485009ALDH18A1-related de Barsy syndrome disorder
1295488006Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome disorder