Thyroid Dysgenesis

Preferred Label : Thyroid Dysgenesis;

NCIt definition : A congenital condition characterized by hypoplasia, absence, or ectopic position of the thyroid gland. It is manifested with congenital hypoparathyroidism.;

Alternative definition : NICHD: A congenital condition characterized by hypoplasia, absence, or ectopic position of the thyroid gland.;

Details

Origin ID

C85190;

UMLS CUI

C1563716;

Automatic exact mappings (from CISMeF team)
- Primary congenital hypothyroidism due to a developmental anomaly [ICD-11 More detail]
- Thyroid dysgenesis [HPO term]
Currated CISMeF NLP mapping
- Hypothyroidism, congenital, nongoitrous, 2 [OMIM Phenotype]
- congenital nongoitrous hypothyroidism 2 [DO Concept]
- hypothyroidism, congenital, nongoitrous, 2 [MeSH concept]
- hypothyroidism, congenital, nongoitrous, 2 [MeSH Supplementary Concept]
- thyroid dysgenesis [MeSH Descriptor]
- thyroid dysgenesis [MeSH concept]
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)
- Thyroid dysgenesis [HPO term]
- thyroid dysgenesis [MeSH Descriptor]
- thyroid dysgenesis [MeSH concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [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) :

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