Rett Syndrome - CISMeF

Preferred Label : Rett Syndrome;

NCIt related terms : Rett's syndrome;

NCIt definition : A progressive neurologic disorder caused by mutations in the MECP2 gene on chromosome X. It almost exclusively affects girls. It is characterized by language and learning difficulties, poor communication skills, and repetitive hand motions. Other signs and symptoms include microcephaly, scoliosis, breathing abnormalities, and sleep disturbances.;

Codes from synonyms : F84.2;

Details

Origin ID

C75488;

UMLS CUI

C0035372;

Currated CISMeF NLP mapping
- Rett Syndrome [Disease (Nov.)]
- Rett syndrome [PASCAL descriptor]
- Rett syndrome [DO Concept]
- Rett syndrome [ICD-11 Subcategory]
- Rett syndrome [MedDRA Preferred Term]
- Rett syndrome [Radlex concept]
- Rett syndrome [OMIM Phenotype]
- Rett syndrome [ORDO Disease]
- Rett's disorder [DSM-IV term]
- Rett's disorder [MedDRA LLT]
- Rett's disorder (disorder) [SNOMED CT concept]
- Rett's syndrome [ICD-10 Sub-category]
- Retts syndrome [ICD-10 Sub-category (who)]
- rett syndrome [MedlinePlus Topic]
- rett syndrome [MeSH Descriptor]
- rett syndrome [MeSH concept]
- rett's disorder [MedDRA Preferred Term]
- rett's disorder [SNOMED Notion]
DO Cross reference
- Rett syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rett Syndrome [Disease (Nov.)]
- Rett syndrome [ORDO Disease]
- Rett syndrome [OMIM Phenotype]
- Rett syndrome [Radlex concept]
- Rett syndrome [PASCAL descriptor]
- Rett syndrome [DO Concept]
- Rett syndrome [ICD-11 Subcategory]
- Rett syndrome [MedDRA Preferred Term]
- Rett's disorder [MedDRA LLT]
- Rett's disorder (disorder) [SNOMED CT concept]
- Rett's syndrome [ICD-10 Sub-category]
- Retts syndrome [ICD-10 Sub-category (who)]
- rett syndrome [MedlinePlus Topic]
- rett syndrome [MeSH concept]
- rett syndrome [MeSH Descriptor]
- rett's disorder [MedDRA Preferred Term]
- rett's disorder [SNOMED Notion]
associated_with_malfunction_of_gene_product
- Methyl-CpG-Binding Protein 2 [NCIt concept]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neurological Development Terminology [NCIt concept]
- mCode Elixhauser Other Neurological Disorder Value Set [NCIt concept]
- mCode Terminology [NCIt concept]
disease_has_associated_gene
- MECP2 wt Allele [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- MECP2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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