Congenital Hypothyroidism

Preferred Label : Congenital Hypothyroidism;

NCIt definition : A deficiency of thyroid hormone present at birth. The etiology can be genetic or environmental, or a combination of both; treatment is based on severity and causality.;

Alternative definition : NICHD: Hypothyroidism, the cause of which is present at birth.;

Details

Origin ID

C26734;

UMLS CUI

C0010308;

Automatic exact mappings (from CISMeF team)
- Endemic cretinism (disorder) [SNOMED CT concept]
- cretinism, nos [SNOMED Notion]
Currated CISMeF NLP mapping
- Congenital hypothyroidism [ICD-9 code]
- Congenital hypothyroidism [ICD-11 Subcategory]
- Congenital hypothyroidism [HPO term]
- Congenital hypothyroidism [LOINC component]
- Congenital hypothyroidism [MedDRA Preferred Term]
- Congenital hypothyroidism [ORDO Disease]
- Congenital hypothyroidism (disorder) [SNOMED CT concept]
- Congenital iodine deficiency syndrome (disorder) [SNOMED CT concept]
- HYPOTHYROIDISM CONGENITAL [WHO-ART Preferred Term]
- Hypothyroidism congenital [MedDRA LLT]
- congenital hypothyroidism [DO Concept]
- congenital hypothyroidism [Disease (Nov.)]
- congenital hypothyroidism [MeSH Descriptor]
- congenital hypothyroidism [MeSH concept]
DO Cross reference
- congenital hypothyroidism [DO Concept]
False automatic mappings
- Congenital hypothyroidism (disorder) [SNOMED CT concept]
Has associated anatomic sites
- 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)
- Congenital hypothyroidism [ICD-9 code]
- Congenital hypothyroidism [HPO term]
- Congenital hypothyroidism [ORDO Disease]
- Congenital hypothyroidism [LOINC component]
- Congenital hypothyroidism [MedDRA Preferred Term]
- Congenital hypothyroidism (disorder) [SNOMED CT concept]
- Cretinism [MedDRA LLT]
- HYPOTHYROIDISM CONGENITAL [WHO-ART Preferred Term]
- Hypothyroidism congenital [MedDRA LLT]
- congenital hypothyroidism [DO Concept]
- congenital hypothyroidism [Disease (Nov.)]
- congenital hypothyroidism [MeSH Descriptor]
- congenital hypothyroidism [MeSH concept]
- cretinism, nos [SNOMED Notion]
Validated automatic mappings to NTBT
- congenital anomaly endocrine/metabolic [ICPC-2 Rubric]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Newborn Screening 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) :

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