Code System Concept

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Code System Concept

Code System Concept Code	1220590003
Code System Concept Name	Familial chilblain lupus erythematosus (disorder)
Code System Preferred Concept Name	Familial chilblain lupus erythematosus (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Superseded By Concept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	09/01/2022
SDO Date Created	05/31/2022
SDO Date Revised	05/31/2022
Description	A rare monogenic form of cutaneous lupus erythematosus characterized by infantile or childhood onset of cold-induced erythematous papules or plaques predominantly on the fingers, toes, nose, cheeks, and ears. Recurrent ulceration of the lesions may lead to necrotic tissue destruction and mutilation. Patients may experience ischemia of the affected acral regions. Histological findings include cutaneous perivascular inflammatory infiltrates with deposits of immunoglobulins or complement.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
5045314019	Familial chilblain lupus erythematosus	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)

Autosomal dominant hereditary disorder (disorder) {11164009 , SNOMED-CT } Chilblain lupus erythematosus (disorder) {238928005 , SNOMED-CT } Chronic disease of immune function (disorder) {413834006 , SNOMED-CT } Chronic disease of immune structure (disorder) {413835007 , SNOMED-CT } Chronic disease of skin (disorder) {128236002 , SNOMED-CT } Connective tissue hereditary disorder (disorder) {363045008 , SNOMED-CT } Hereditary disorder of immune system (disorder) {363138005 , SNOMED-CT } Hereditary disorder of the integument (disorder) {363185004 , SNOMED-CT } Type I interferon-associated autoinflammatory disease (disorder) {1295193002 , 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,