Code System Concept

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Code System Concept

Code System Concept Code	718183003
Code System Concept Name	Familial thyroid dyshormonogenesis (disorder)
Code System Preferred Concept Name	Familial thyroid dyshormonogenesis (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Superseded By Concept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	07/31/2016
SDO Date Created	07/31/2016
SDO Date Revised	07/31/2016
Description	A type of primary congenital hypothyroidism a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. Clinical manifestations are those of other forms of congenital hypothyroidism. In addition to features of hypothyroidism, patients can present with goitre. Caused by hereditary defects in the steps of thyroid hormone synthesis and secretion, the majority of which are transmitted in an autosomal recessive manner but at least one condition has autosomal dominant inheritance.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3311174018	Familial thyroid dyshormonogenesis	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7
Problem Value Set	3

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Congenital hypothyroidism (disorder) {190268003 , SNOMED-CT } Hereditary disorder of endocrine system (disorder) {363104002 , 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,