Other inherited spinal muscular atrophy

Preferred Label : Other inherited spinal muscular atrophy;

Inclusion CIM-10 : Scapuloperoneal form spinal muscular atrophy; Distal spinal muscular atrophy; Childhood form, type II spinal muscular atrophy; Juvenile form, type III spinal muscular atrophy [Kugelberg-Welander]; Adult form spinal muscular atrophy; Progressive bulbar palsy of childhood [Fazio-Londe];

Diag associé à un acte (%) : 64.7;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

G121;

UMLS CUI

C0477349;

Automatic exact mappings (from CISMeF team)
- Distal hereditary motor neuropathy [ORDO Disease]
- Distal spinal muscular atrophy (disorder) [SNOMED CT concept]
- Proximal spinal muscular atrophy type 4 [ORDO Disease]
- Scapuloperoneal form of spinal muscular atrophy [ICD-11 More detail]
- Spinal muscular atrophy, type iv [OMIM Phenotype]
Currated CISMeF NLP mapping
- Other inherited spinal muscular atrophy [ICD-10 Sub-category (who)]
- adult spinal muscular atrophy [SNOMED Notion]
- adult spinal muscular atrophy [DO Concept]
- myelopathic muscular atrophy [MeSH concept]
DO Cross reference
- adult spinal muscular atrophy [DO Concept]
- scapuloperoneal spinal muscular atrophy [DO Concept]
Manual NTBT mappings (CISMeF)
- X-linked distal spinal muscular atrophy type 3 [ORDO Disease]
Orphanet concepts
- Autosomal dominant adult-onset proximal spinal muscular atrophy [ORDO Disease]
- Autosomal dominant childhood-onset proximal spinal muscular atrophy [ORDO Disease]
- Autosomal dominant congenital benign spinal muscular atrophy [ORDO Disease]
- Autosomal dominant distal hereditary motor neuropathy [ORDO Disease]
- Autosomal dominant proximal spinal muscular atrophy [ORDO Disease]
- BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy [ORDO Disease]
- DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy [ORDO Disease]
- Distal spinal muscular atrophy [ORDO Disease]
- Infantile-onset X-linked spinal muscular atrophy [ORDO Disease]
- Lower motor neuron syndrome with late-adult onset [ORDO Disease]
- Neurogenic scapuloperoneal syndrome, Kaeser type [ORDO Disease]
- Progressive bulbar paralysis of childhood [ORDO Disease]
- Proximal spinal muscular atrophy [ORDO Disease]
- Proximal spinal muscular atrophy type 2 [ORDO Disease]
- Proximal spinal muscular atrophy type 3 [ORDO Disease]
- Proximal spinal muscular atrophy type 4 [ORDO Disease]
- RFVT2-related riboflavin transporter deficiency [ORDO Disease]
- RFVT3-related riboflavin transporter deficiency [ORDO Disease]
- Riboflavin transporter deficiency [ORDO Disease]
- Scapuloperoneal spinal muscular atrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Other Inherited Spinal Muscular Atrophy [NCIt concept]
Validated automatic mappings to BTNT
- Autosomal dominant distal hereditary motor neuropathy [ORDO Disease]
- Autosomal recessive distal hereditary motor neuropathy [ORDO Disease]

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