National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
Preferred Name

Congenital Hypothyroidism

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26734

ALT_DEFINITION

A condition due to congenital lack of thyroid hormone, marked by arrested physical and mental development, dystrophy of the bones and soft parts, and lowered basal metabolism. It is the congenital form of thyroid deficiency, while MYXEDEMA is the acquired form. (From Dorland, 27th ed)

code

C26734

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C89506

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147

Contributing_Source

NICHD

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.

Has_NICHD_Parent

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34816

label

Congenital Hypothyroidism

Legacy_Concept_Name

Congenital_Hypothyroidism

NICHD_Hierarchy_Term

Congenital Hypothyroidism

Preferred_Name

Congenital Hypothyroidism

prefixIRI

C26734

prefLabel

Congenital Hypothyroidism

Semantic_Type

Disease or Syndrome

Congenital Abnormality

UMLS_CUI

C0010308

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26800

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C27304

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http://purl.obolibrary.org/obo/HP_0000851 Human Phenotype Ontology LOOM
http://purl.bioontology.org/ontology/LNC/LP56766-6 Logical Observation Identifier Names and Codes LOOM
http://purl.bioontology.org/ontology/MESH/D003409 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/LNC/MTHU025182 Logical Observation Identifier Names and Codes LOOM
http://purl.obolibrary.org/obo/DOID_0050328 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU003987 Online Mendelian Inheritance in Man LOOM
http://purl.bmicc.cn/ontology/ICD11CN/5A00.0 International Classification of Diseases, 11th Edition, China LOOM