Code System Concept

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Code System Concept

Code System Concept Code	1260240000
Code System Concept Name	Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha (disorder)
Code System Preferred Concept Name	Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	03/01/2024
SDO Date Created	01/31/2023
SDO Date Revised	01/31/2023
Description	A rare primary congenital hypothyroidism with characteristics of a markedly reduced T4/T3 ratio, normal levels of thyroid-stimulating hormone and a highly variable clinical phenotype, which most commonly includes decreased metabolic rate, bradycardia, chronic constipation, neurodevelopmental delay, delayed bone age and skeletal abnormalities. Dysmorphic craniofacial features, such as macrocephaly, broad face, flat nose, large tongue and thick lips have also been reported. Some patients may show only minimal signs and symptoms.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
5159866019	Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha	Active	Synonym	false	false
5159868018	Resistance to thyroid hormone alpha	Active	Synonym	false	false
5159869014	Resistance to thyroid hormone due to mutation in TRa	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Congenital hypothyroidism (disorder) {190268003 , SNOMED-CT } Genetic disease (disorder) {782964007 , SNOMED-CT } Primary hypothyroidism (disorder) {57185003 , SNOMED-CT }	Other Relationships No other relationships present.
Child Concepts No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,