Congenital Thyroid Gland Aplasia

Preferred Label : Congenital Thyroid Gland Aplasia;

NCIt synonyms : Congenital Thyroid Aplasia;

NCIt related terms : Thyroid Agenesis; Athyreosis;

NCIt definition : Absence of the thyroid gland in a newborn.;

Alternative definition : NICHD: Absence of the thyroid gland.;

Details

Origin ID

C27112;

UMLS CUI

C0749420;

Automatic exact mappings (from CISMeF team)
- Acquired hypothyroidism [ICD-11 Subcategory]
- Athyreosis [ORDO Disease]
- Hypothyroidism, congenital, nongoitrous, 2 [OMIM Phenotype]
- thyroid dysgenesis [MeSH Descriptor]
Currated CISMeF NLP mapping
- Congenital absence of thyroid gland (disorder) [SNOMED CT concept]
- Thyroid agenesis [HPO term]
- Thyroid agenesis [ICD-11 More detail]
- thyroid agenesis [MeSH concept]
- thyroid agenesis [Disease (Nov.)]
Has associated anatomic sites
- Head and Neck [NCIt concept]
- Neck [NCIt concept]
- Thyroid Gland [NCIt concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital absence of thyroid gland (disorder) [SNOMED CT concept]
- Thyroid agenesis [HPO term]
- Thyroid agenesis [MedDRA Preferred Term]
- thyroid agenesis [MeSH concept]
- thyroid agenesis [Disease (Nov.)]
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
- Thyroid Gland [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients