MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome

Preferred Label : MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0530490;

UMLS CUI

C0795953;

Currated CISMeF NLP mapping
- Intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome (disorder) [SNOMED CT concept]
- MASA Syndrome [NCIt concept]
- MASA syndrome [Disease (Nov.)]
- MASA syndrome [DO Concept]
- MASA syndrome [ICD-11 More detail]
- MASA syndrome [ORDO Disease]
- Masa syndrome [OMIM Phenotype]
- X-linked complicated spastic paraplegia type 1 [ORDO Disease]
Related record
- MASA (Mental retardation, aphasia, shuffling gait, adducted thumbs) syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome (disorder) [SNOMED CT concept]
- Intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome (disorder) [SNOMED CT concept]
- L1 syndrome [ORDO Disease]
- MASA Syndrome [NCIt concept]
- MASA syndrome [ORDO Disease]
- MASA syndrome [DO Concept]
- MASA syndrome [Disease (Nov.)]
- Masa syndrome [OMIM Phenotype]
- X-linked complicated spastic paraplegia type 1 [ORDO Disease]

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