Iodide Transport Defect

Preferred Label : Iodide Transport Defect;

Alternative definition : NICHD: A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition.;

Détails

Origin ID

C121747;

UMLS CUI

C0271826;

Currated CISMeF NLP mapping
- Iodide transport defect (disorder) [SNOMED CT concept]
- iodide transport defect [SNOMED Notion]
Has associated anatomic sites
- Endocrine Gland [NCIt concept]
- Endocrine System [NCIt concept]
- Head and Neck [NCIt concept]
- Neck [NCIt concept]
- Thyroid Gland [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Iodide transport defect (disorder) [SNOMED CT concept]
- iodide transport defect [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_normal_tissue_origin
- Thyroid Gland Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Endocrine System [NCIt concept]
- Head and Neck [NCIt concept]
- Neck [NCIt concept]
- Thyroid Gland [NCIt concept]
disease_mapped_to_gene
- SLC5A5 Gene [NCIt concept]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients