Rett syndrome - CISMeF

Preferred Label : Rett syndrome;

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];

UMLS CUI (RADLEX) : C0035372;

Détails

Origin ID

RID5166;

UMLS CUI

C0035372;

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 [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 concept]
- rett syndrome [MeSH Descriptor]
- rett's disorder [MedDRA Preferred Term]
- rett's disorder [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rett Syndrome [NCIt concept]
- Rett Syndrome [Disease (Nov.)]
- Rett syndrome [OMIM Phenotype]
- Rett syndrome [ORDO Disease]
- 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 syndrome [MeSH Descriptor]
- rett syndrome [MeSH concept]
- rett's disorder [MedDRA Preferred Term]
- rett's disorder [SNOMED Notion]

Position du mot-clé dans l'(les) arborescence(s) :

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