Code System Concept

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Code System Concept

Code System Concept Code	718614004
Code System Concept Name	Telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome (disorder)
Code System Preferred Concept Name	Telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome (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Superseded By Concept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	01/31/2017
SDO Date Created	01/31/2017
SDO Date Revised	01/31/2017
Description	A rare multi-systemic disease with less than 10 cases described in literature. Manifests in mid-adulthood with the development of telangiectasia mostly on the face, trunk and arms, as well as with erythrocytosis that may cause a red facies and occasionally, headaches. The increased serum erythropoietin levels precede the intrapulmonary shunting. The intrapulmonary shunts cause hypoxia which slowly progresses until the person needs continuous supplemental oxygen. Blood clots, probably due to erythrocytosis, and bleeding in the brain have also been reported in some affected individuals. Monoclonal gammopathy and perinephric fluid collections are usually found incidentally and do not seem to cause any complications. The syndrome has a slow and regular progression. The cause of TEMPI syndrome is currently unknown. The abnormal plasma-cell clone and/or the monoclonal gammopathy are suggested to be triggers of the disease.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3312945014	Telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome	Active	Synonym	false	false
3312946010	TEMPI syndrome	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) Erythrocytosis (disorder) {127062003 , SNOMED-CT } Monoclonal gammopathy (disorder) {109983007 , SNOMED-CT } Multisystem disorder (disorder) {281867008 , SNOMED-CT } Telangiectasia disorder (disorder) {247479008 , SNOMED-CT } Telangiectasia of skin (disorder) {1197432002 , 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,