Schwartz-Jampel syndrome

Schwartz-Jampel syndrome (disorder)

active

Code	`29145002`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20020131

Synonyms

Aberfeld syndrome
Burton skeletal dysplasia
Burton syndrome
Catel Hempel syndrome
Chondrodystrophic myotonia
Myotonia chondrodystrophica
Osteochondromuscular dystrophy

Parents (8)

85995004Autosomal recessive hereditary disorder disorder
363070008Developmental hereditary disorder disorder
363212003Hereditary disorder of musculoskeletal system disorder
363235000Hereditary disorder of nervous system disorder
82354003Multiple system malformation syndrome disorder
257277002Myoneural disorder disorder
726051002Myotonia congenita disorder
278713008Spondyloepiphyseal dysplasia congenita disorder

Children (0)

None (leaf concept).