Allan-Herndon-Dudley syndrome

Preferred Label : Allan-Herndon-Dudley syndrome;

ICD-11 definition : Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual deficiency syndrome with neuromuscular involvement characterized by hypotonia, muscular hypoplasia and intellectual deficit.;

ICD-11 synonym : X-linked intellectual deficit - hypotonia; AHDS - [Allan-Herndon-Dudley syndrome];

ICD-11 acronym : AHDS;

Details

Origin ID

56813604;

UMLS CUI

C0795889;

Automatic exact mappings (from CISMeF team)
- Allan-Herndon-Dudley syndrome [MedDRA Preferred Term]
- SLC16A2 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Allan Herndon Dudley syndrome [Disease (Nov.)]
- Allan-Herndon-Dudley Syndrome [NCIt concept]
- Allan-Herndon-Dudley syndrome [MeSH Supplementary Concept]
- Allan-Herndon-Dudley syndrome [MeSH concept]
- Allan-Herndon-Dudley syndrome [DO Concept]
- Allan-Herndon-Dudley syndrome [ORDO Disease]
- Allan-herndon-dudley syndrome [OMIM Phenotype]
- Monocarboxylate transporter 8 deficiency (disorder) [SNOMED CT concept]
False automatic mappings
- sasa [MeSH Descriptor]
- sasa [MeSH concept]
- solute carrier family 16 member 2 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Allan Herndon Dudley syndrome [Disease (Nov.)]
- Allan-Herndon-Dudley Syndrome [NCIt concept]
- Allan-Herndon-Dudley syndrome [DO Concept]
- Allan-Herndon-Dudley syndrome [MeSH concept]
- Allan-Herndon-Dudley syndrome [MeSH Supplementary Concept]
- Allan-Herndon-Dudley syndrome [ORDO Disease]
- Allan-Herndon-Dudley syndrome [MedDRA Preferred Term]
- Allan-herndon-dudley syndrome [OMIM Phenotype]
- Monocarboxylate transporter 8 deficiency (disorder) [SNOMED CT concept]

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