MASA Syndrome - CISMeF

Preferred Label : MASA Syndrome;

NCIt synonyms : Mental retardation, Aphasia, Shuffling Gait, and Adducted Thumbs; SPG1; Gareis-Mason Syndrome; Spastic Paraplegia, X-linked; CRASH Syndrome;

NCIt definition : An X-linked recessive condition caused by mutation(s) in the L1CAM gene, encoding neural cell adhesion molecule L1. It is characterized by mental retardation, aphasia, shuffling gait and adducted thumbs.;

Details

Origin ID

C129930;

UMLS CUI

C0795953;

Automatic exact mappings (from CISMeF team)
- Hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome (disorder) [SNOMED CT concept]
- L1 cell adhesion molecule [ORDO Gene]
- L1 syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome (disorder) [SNOMED CT concept]
- MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MeSH concept]
- MASA (Mental retardation, aphasia, shuffling gait, adducted thumbs) syndrome [MeSH Supplementary Concept]
- MASA syndrome [DO Concept]
- MASA syndrome [ORDO Disease]
- MASA syndrome [ICD-11 More detail]
- MASA syndrome [Disease (Nov.)]
- Masa syndrome [OMIM Phenotype]
- X-linked complicated spastic paraplegia type 1 [ORDO Disease]
DO Cross reference
- MASA syndrome [DO 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 (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome [MeSH concept]
- MASA (Mental retardation, aphasia, shuffling gait, adducted thumbs) syndrome [MeSH Supplementary 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]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- L1CAM Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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