Werdnig-Hoffmann Disease

Preferred Label : Werdnig-Hoffmann Disease;

NCIt synonyms : Severe Infantile Spinal Muscular Atrophy; Spinal Muscular Atrophy, Type I;

NCIt related terms : Infantile spinal muscular atrophy, type I [Werdnig-Hoffman];

NCIt definition : The most severe form of spinal muscular atrophy. It is manifested in the first year of life with muscle weakness, poor muscle tone, and lack of motor development. The motor neuron death affects the major organ systems, particularly the respiratory system. Most patients die before the age of two secondary to pneumonia.;

Codes from synonyms : G12.0;

Details

Origin ID

C98670;

UMLS CUI

C0043116;

Currated CISMeF NLP mapping
- HMN (Hereditary motor neuropathy) proximal type I [MeSH concept]
- Infantile spinal muscular atrophy, Type I [ICD-11 Subcategory]
- Infantile spinal muscular atrophy, type I [Werdnig-Hoffman] [ICD-10 Sub-category (who)]
- Infantile spinal muscular atrophy, type I [Werdnig-Hoffman] [ICD-10 Sub-category]
- Proximal spinal muscular atrophy type 1 [ORDO Disease]
- Spinal muscular atrophy type I [MedDRA LLT]
- Spinal muscular atrophy, type I [OMIM Phenotype]
- Werdnig-Hoffmann disease [ICD-9 code]
- Werdnig-Hoffmann disease [MedDRA LLT]
- Werdnig-Hoffmann disease [PASCAL descriptor]
- Werdnig-Hoffmann disease [DO Concept]
- Werdnig-Hoffmann disease (disorder) [SNOMED CT concept]
- spinal muscular atrophy type I [Disease (Nov.)]
- werdnig-hoffmann disease [SNOMED Notion]
DO Cross reference
- Werdnig-Hoffmann disease [DO Concept]
Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- HMN (Hereditary motor neuropathy) proximal type I [MeSH concept]
- Infantile spinal muscular atrophy, Type I [ICD-11 Subcategory]
- Infantile spinal muscular atrophy, type I [Werdnig-Hoffman] [ICD-10 Sub-category (who)]
- Infantile spinal muscular atrophy, type I [Werdnig-Hoffman] [ICD-10 Sub-category]
- Proximal spinal muscular atrophy type 1 [ORDO Disease]
- Spinal muscular atrophy infantile onset [MedDRA LLT]
- Spinal muscular atrophy type I [MedDRA LLT]
- Spinal muscular atrophy, type I [OMIM Phenotype]
- Werdnig-Hoffmann disease [MedDRA LLT]
- Werdnig-Hoffmann disease [ICD-9 code]
- Werdnig-Hoffmann disease [DO Concept]
- Werdnig-Hoffmann disease [PASCAL descriptor]
- Werdnig-Hoffmann disease (disorder) [SNOMED CT concept]
- spinal muscular atrophy type I [Disease (Nov.)]
- werdnig-hoffmann disease [SNOMED Notion]
Validated automatic mappings to NTBT
- spinal muscular atrophies of childhood [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- mCode Elixhauser Neurological Movement Disorder Value Set [NCIt concept]
- mCode Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]
disease_mapped_to_gene
- SMN1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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