Allan-Herndon-Dudley syndrome

Preferred Label : Allan-Herndon-Dudley syndrome;

CISMeF synonym : T3 resisitence; triiodothyronine resistence;

MeSH synonym : Allan-Herndon syndrome; monocarboxylate transporter-8 deficiency; X-linked mental retardation with hypotonia; mental retardation and muscular atrophy; mental retardation, X-Linked, with hypotonia; monocarboxylate transporter 8 deficiency; T3 resistance; triiodothyronine resistance; monocarboxylate transporter 8 (Mct8) deficiency; Mct8 (Slc16a2)-Specific thyroid hormone cell transporter deficiency;

Details

Origin ID

C537047;

UMLS CUI

C0795889;

Automatic exact mappings (from CISMeF team)
- Allan-Herndon-Dudley syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Allan Herndon Dudley syndrome [Disease (Nov.)]
- Allan-Herndon-Dudley Syndrome [NCIt concept]
- Allan-Herndon-Dudley syndrome [DO Concept]
- Allan-Herndon-Dudley syndrome [ICD-11 More detail]
- Allan-Herndon-Dudley syndrome [ORDO Disease]
- Allan-herndon-dudley syndrome [OMIM Phenotype]
- Monocarboxylate transporter 8 deficiency (disorder) [SNOMED CT concept]
DO Cross reference
- Allan-Herndon-Dudley syndrome [DO Concept]
MeSH term(s) associated for indexing
- X-Linked Intellectual Disability [MeSH Descriptor]
- muscle hypotonia [MeSH Descriptor]
- muscular atrophy [MeSH Descriptor]
ORDO relation(s)
- Allan-Herndon-Dudley syndrome [ORDO Disease]
Record concept(s)
- Allan-Herndon-Dudley syndrome [MeSH concept]
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 [ORDO Disease]
- Allan-Herndon-Dudley syndrome [DO Concept]
- Allan-Herndon-Dudley syndrome [ICD-11 More detail]
- Allan-Herndon-Dudley syndrome [MedDRA Preferred Term]
- Allan-herndon-dudley syndrome [OMIM Phenotype]
- Monocarboxylate transporter 8 deficiency (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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