Autosomal recessive hereditary disorder	Congenital combined disorder of muscle and peripheral nerve	Developmental hereditary disorder	Hereditary disorder of musculoskeletal system	Hereditary disorder of nervous system	Hereditary myopathy	Multiple system malformation syndrome	Myoneural disorder	Myotonia congenita	Spondyloepiphyseal dysplasia congenita
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Schwartz-Jampel syndrome (disorder)
	Schwartz-Jampel syndrome
	Osteochondromuscular dystrophy Burton syndrome Aberfeld syndrome Chondrodystrophic myotonia Burton skeletal dysplasia Myotonia chondrodystrophica Catel Hempel syndrome
	chondrodystrofische myotonie
	Schwartz-Jampel-syndroom

Id	29145002
Status	Primitive

Associated morphology	Dysplasia
Finding site	Bone structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Finding site	Peripheral nervous system structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Finding site	Skeletal muscle structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q78.8
Rule	TRUE
Advice	ALWAYS Q78.8
Correlation	SNOMED CT source code to target map code correlation not specified