MASA (Mental retardation, aphasia, shuffling gait, adducted thumbs) syndrome

Preferred Label : MASA (Mental retardation, aphasia, shuffling gait, adducted thumbs) syndrome;

MeSH synonym : clasped thumb and mental retardation; crash syndrome; thumb, congenital clasped, with mental retardation; mental retardation, aphasia, shuffling gait, adducted thumbs (MASA); spastic paraplegia, type 1; adducted thumb with mental retardation; Gareis-Mason syndrome; mental retardation, aphasia, shuffling gait, and adducted thumbs; X-Linked hydrocephalus with stenosis of the aqueduct of sylvius (Hsas); masa syndrome; L1 syndrome; genetic diseases, X-Linkeds; Spg1; X-Linked complicated hereditary spastic paraplegia type 1; X-Linked corpus callosum agenesis;

Details

Origin ID

C536029;

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 [DO Concept]
- MASA syndrome [Disease (Nov.)]
- MASA syndrome [ICD-11 More detail]
- MASA syndrome [ORDO Disease]
- Masa syndrome [OMIM Phenotype]
- X-linked complicated spastic paraplegia type 1 [ORDO Disease]
DO Cross reference
- MASA syndrome [DO Concept]
False automatic mappings
- L1 syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- genetic diseases, X-linked [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- spastic paraplegia, hereditary [MeSH Descriptor]
ORDO relation(s)
- MASA syndrome [ORDO Disease]
Record concept(s)
- MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MeSH 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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