Code System Concept

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Code System Concept

Code System Concept Code	1336030008
Code System Concept Name	Keratitis fugax hereditaria (disorder)
Code System Preferred Concept Name	Keratitis fugax hereditaria (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Superseded By Concept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	09/01/2024
SDO Date Created	06/01/2024
SDO Date Revised	06/01/2024
Description	A rare ophthalmic disorder characterised by periodic inflammatory attacks of the cornea manifesting as unilateral ocular pain, conjunctival hyperaemia, photophobia and epiphora lasting for 1 to 3 days, followed by blurred vision for several weeks. Caused by a heterozygous pathogenic variant c.61G>C, p.(Asp21His) in the NLRP3 gene. The pathogenic variant is highly penetrant (95%). The disease is autosomal dominant.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
5362908015	Keratitis fugax hereditaria	Active	Synonym	false	false
5362910018	Keratoendotheliitis fugax hereditaria	Active	Synonym	false	false
5362911019	KFH - keratitis fugax hereditaria	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)

Autoinflammatory disease (disorder) {42111000175103 , SNOMED-CT } Autosomal dominant hereditary disorder (disorder) {11164009 , SNOMED-CT } Hereditary disorder of immune system (disorder) {363138005 , SNOMED-CT } Hereditary disorder of the visual system (disorder) {363343008 , SNOMED-CT } Keratitis (disorder) {5888003 , SNOMED-CT } Recurrent disease (disorder) {58184002 , 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,