OMOP Concept 4289999
Inherited disorder of thyroid metabolism
StandardConditionSNOMED36985004Disorder
Maps from
2
Descendants
31
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
2 source codes normalize to Inherited disorder of thyroid metabolism via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 137135 | Inherited Disorder of Thyroid Metabolism | Non-standard |
| Nebraska Lexicon | 36985004 | Inherited disorder of thyroid metabolism | Non-standard |
Synonyms
Alternative names recorded for Inherited disorder of thyroid metabolism across source vocabularies.
- alteración hereditaria del metabolismo tiroideo
- alteración hereditaria del metabolismo tiroideo (trastorno)
- Inherited disorder of thyroid metabolism (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(17)Roll up to these when you need a wider cohort.
- 1Disorder of thyroid gland
- 1Hereditary disorder of endocrine system
- 1Inborn error of metabolism
- 2Congenital disease
- 2Disorder of endocrine system
- 2Disorder of neck
- 2Finding of thyroid gland
- 2Hereditary disorder by system
- 2Hereditary metabolic disease
- 3Disease
- 3Disorder of body system
- 3Disorder of fetus and/or newborn
- 3Finding of neck region
- 3Hereditary disease
- 3Metabolic disease
- 4Clinical finding
- 4Genetic disease
Narrower concepts
(31)Included automatically when you query with descendants.
- 1Hypothyroidism due to defect in thyroid hormone synthesis
- 1Hypothyroidism due to iodide trapping defect
- 1Iodide oxidation defect
- 1Iodide peroxidase defect
- 1Iodide transport defect
- 1Iodotyrosine deiodination defect
- 1Iodotyrosyl coupling defect
- 1Pendred's syndrome
- 1Thyroglobulin proteolysis defect
- 1Thyroglobulin synthesis defect
- 1Thyroid hormone responsiveness defect
- 1Thyroxine transport defect
- 2Allan-Herndon-Dudley syndrome
- 2Autosomal dominant excess of transthyretin
- 2Autosomal dominant variant form of albumin
- 2Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation
- 2Hypothyroidism due to iodide organification defect
- 2Peripheral resistance to thyroid hormone
- 2Thyroid hormone resistance syndrome
- 2Thyroxine plasma membrane transport defect
- 2X-linked absence of thyroxine-binding globulin
- 2X-linked excess of thyroxine-binding globulin
- 2X-linked reduction of thyroxine-binding globulin
- 2X-linked variant form of thyroxine-binding globulin
- 3Generalized thyroid hormone resistance
- 3Pituitary thyroid hormone resistance
- 3Thyrotoxicosis due to pituitary thyroid hormone resistance
- 4Adrenocorticotropic hormone resistance syndrome
- 4Refetoff syndrome
- 5Familial glucocorticoid deficiency
- 5Glucocorticoid deficiency with achalasia
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