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Metadata
ID DOID:13137
Name Werdnig-Hoffmann disease
Definition A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted.
https://www.ncbi.nlm.nih.gov/pubmed/?term=10700541
Xrefs

GARD:7883

ICD10CM:G12.0

ICD9CM:335.0

NCI:C98670

OMIM:253300

SNOMEDCT_US_2019_09_01:64383006

UMLS_CUI:C0043116

Subsets

NCIthesaurus

Synonyms

hereditary motor neuropathy proximal type I [EXACT]

HMN (Hereditary motor Neuropathy) Proximal type I [EXACT]

infantile muscular atrophy [EXACT]

progressive muscular atrophy of infancy [EXACT]

SMA1 [EXACT]

Spinal muscular atrophy 1 [EXACT]

Parent Relationships

is_a childhood spinal muscular atrophy

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