congenital hypothyroidism

Preferred Label : congenital hypothyroidism;

MeSH definition : A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can be caused by genetic or environmental factors, such as thyroid dysgenesis or HYPOTHYROIDISM in infants of mothers treated with THIOURACIL during pregnancy. Endemic cretinism is the result of iodine deficiency. Clinical symptoms include severe MENTAL RETARDATION, impaired skeletal development, short stature, and MYXEDEMA.;

MeSH synonym : cretinism; hypothyroidism, congenital;

Wikipedia automatic translation : Congenital iodine deficiency syndrome;

MeSH hyponym : myxedema, congenital; endemic cretinism; Cretinism, Endemic; Fetal Iodine Deficiency Disorder;

Wikipedia link : https://en.wikipedia.org/wiki/Congenital iodine deficiency syndrome;

Details

Origin ID

D003409;

UMLS CUI

C0010308;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Congenital goiter [HPO term]
- Congenital hypothyroidism without goitre [ICD-10 Sub-category (who)]
- Cretinism [PASCAL descriptor]
- Cretinism [MedDRA LLT]
- Endemic Cretinism [NCIt concept]
- Endemic cretinism (disorder) [SNOMED CT concept]
- Fetal iodine deficiency disorder [OMIM Phenotype]
- Myxedematous form of cretinism (disorder) [SNOMED CT concept]
- congenital anomaly endocrine/metabolic [ICPC-2 Rubric]
- cretinism, nos [SNOMED Notion]
- endemic cretinism [SNOMED Notion]
- myxedematous form of cretinism [SNOMED Notion]
Currated CISMeF NLP mapping
- Congenital Hypothyroidism [NCIt concept]
- Congenital hypothyroidism [ICD-11 Subcategory]
- Congenital hypothyroidism [LOINC component]
- Congenital hypothyroidism [ICD-9 code]
- Congenital hypothyroidism [HPO term]
- Congenital hypothyroidism [MedDRA Preferred Term]
- Congenital hypothyroidism [ORDO Disease]
- Congenital hypothyroidism (disorder) [SNOMED CT concept]
- Congenital iodine deficiency syndrome (disorder) [SNOMED CT concept]
- Congenital iodine-deficiency syndrome, unspecified [ICD-10 Sub-category (who)]
- HYPOTHYROIDISM CONGENITAL [WHO-ART Preferred Term]
- Hypothyroidism congenital [MedDRA LLT]
- congenital hypothyroidism [DO Concept]
- congenital hypothyroidism [Disease (Nov.)]
DO Cross reference
- congenital hypothyroidism [DO Concept]
HPO term
- Congenital hypothyroidism [HPO term]
Manual BTNT mappings - CISMeF
- Brain-lung-thyroid syndrome [ORDO Disease]
- Congenital hypothyroidism due to developmental anomaly [ORDO Disease]
- Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies [ORDO Disease]
- Familial thyroid dyshormonogenesis [ORDO Disease]
- Hypothyroidism due to TSH receptor mutations [ORDO Disease]
- Idiopathic congenital hypothyroidism [ORDO Disease]
- Isolated thyroid-stimulating hormone deficiency [ORDO Disease]
- Peripheral resistance to thyroid hormones [ORDO Disease]
- Transient congenital hypothyroidism [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Rare endocrine growth disease [ORDO Disease]
- Rare hypothyroidism [ORDO Disease]
MeSH Descriptor(s) used for indexing
- hypothyroidism [MeSH Descriptor]
- myxedema [MeSH Descriptor]
ORDO relation(s)
- Congenital hypothyroidism [ORDO Disease]
Record concept(s)
- congenital hypothyroidism [MeSH concept]
- endemic cretinism [MeSH concept]
- myxedema, congenital [MeSH concept]
Related MeSH Supplementary Concept(s)
- Congenital Nongoitrous Hypothyroidism [MeSH Supplementary Concept]
- Kocher-Debre-Semelaigne syndrome [MeSH Supplementary Concept]
- Weaver-Like syndrome [MeSH Supplementary Concept]
- choreoathetosis, hypothyroidism, and neonatal respiratory distress [MeSH Supplementary Concept]
- diabetes mellitus, neonatal, with congenital hypothyroidism [MeSH Supplementary Concept]
- ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum [MeSH Supplementary Concept]
- hypothyroidism, congenital, nongoitrous, 1 [MeSH Supplementary Concept]
- hypothyroidism, congenital, nongoitrous, 2 [MeSH Supplementary Concept]
- hypothyroidism, congenital, nongoitrous, 3 [MeSH Supplementary Concept]
- hypothyroidism, congenital, nongoitrous, 5 [MeSH Supplementary Concept]
- thyroid dyshormonogenesis 1 [MeSH Supplementary Concept]
- thyroid dyshormonogenesis 2A [MeSH Supplementary Concept]
- thyroid dyshormonogenesis 4 [MeSH Supplementary Concept]
- thyroid dyshormonogenesis 6 [MeSH Supplementary Concept]
- thyrotropin, biologically inactive [MeSH Supplementary Concept]
- weaver syndrome [MeSH Supplementary Concept]
- young simpson syndrome [MeSH Supplementary Concept]
See also
- hypothyroidism [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- myxedema [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital Hypothyroidism [NCIt concept]
- Congenital hypothyroidism [ICD-9 code]
- Congenital hypothyroidism [HPO term]
- Congenital hypothyroidism [ORDO Disease]
- Congenital hypothyroidism [MedDRA Preferred Term]
- Congenital hypothyroidism [LOINC component]
- 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.)]
- cretinism, nos [SNOMED Notion]

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