rett syndrome - CISMeF

Preferred Label : rett syndrome;

MeSH definition : An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199);

MeSH synonym : autism dementia ataxia loss of purposeful hand use syndrome; rett disorder; cerebroatrophic hyperammonemia; retts syndrome; syndrome, rett's; syndrome, rett; rett's disorder; cerebroatrophic hyperammonemias; hyperammonemia, cerebroatrophic; hyperammonemias, cerebroatrophic; rett's syndrome; autism-dementia-ataxia-loss of purposeful hand use syndrome; autism, dementia, ataxia, and loss of purposeful hand use;

CISMeF synonym : Rett;

Wikipedia link : https://en.wikipedia.org/wiki/Rett syndrome;

Details

Origin ID

D015518;

UMLS CUI

C0035372;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Asperger's disorder (disorder) [SNOMED CT concept]
- Corneal iron line anterior to pterygium (disorder) [SNOMED CT concept]
- Gilles de la Tourette syndrome [MedDRA LLT]
- Gilles de la Tourette's syndrome (disorder) [SNOMED CT concept]
- Mee's line (disorder) [SNOMED CT concept]
- Polysomatizing disorder (disorder) [SNOMED CT concept]
- Tourette's disorder [MedDRA Preferred Term]
- asperger's disorder [SNOMED Notion]
- asperger's disorder [MedDRA Preferred Term]
- briquet's disorder [SNOMED Notion]
- tourette's disorder [SNOMED Notion]
Currated CISMeF NLP mapping
- Rett Syndrome [Disease (Nov.)]
- Rett Syndrome [NCIt concept]
- Rett syndrome [PASCAL descriptor]
- Rett syndrome [DO Concept]
- Rett syndrome [ICD-11 Subcategory]
- Rett syndrome [MedDRA Preferred Term]
- Rett syndrome [OMIM Phenotype]
- Rett syndrome [Radlex concept]
- 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's disorder [MedDRA Preferred Term]
- rett's disorder [SNOMED Notion]
DO Cross reference
- Rett syndrome [DO Concept]
Manual NTBT mappings (CISMeF)
- Monogenic disease with epilepsy [ORDO Disease]
- X-linked syndromic intellectual disability [ORDO Disease]
MedlinePlus topic(s)
- rett syndrome [MedlinePlus Topic]
ORDO relation(s)
- Rett syndrome [ORDO Disease]
Record concept(s)
- rett syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- CDKL5 deficiency disorder [MeSH Supplementary Concept]
- rett syndrome, atypical [MeSH Supplementary Concept]
- rett syndrome, preserved speech variant [MeSH Supplementary Concept]
- rett syndrome, zappella variant [MeSH Supplementary Concept]
See also
- intellectual disability [MeSH Descriptor]
- methyl-cpg-binding protein 2 [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rett Syndrome [Disease (Nov.)]
- Rett Syndrome [NCIt concept]
- Rett syndrome [ORDO Disease]
- Rett syndrome [OMIM Phenotype]
- Rett syndrome [Radlex concept]
- Rett syndrome [DO Concept]
- Rett syndrome [PASCAL descriptor]
- 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's disorder [MedDRA Preferred Term]
- rett's disorder [SNOMED Notion]

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