Code System Concept

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Code System Concept

Code System Concept Code	1263460007
Code System Concept Name	Birt Hogg Dubé syndrome (disorder)
Code System Preferred Concept Name	Birt Hogg Dubé 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Superseded By Concept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	03/01/2024
SDO Date Created	01/31/2023
SDO Date Revised	01/31/2023
Description	A rare inherited cancer-predisposing syndrome characterised by skin lesions, kidney tumours, and pulmonary cysts that may be associated with pneumothorax. The kidney tumours range from benign oncocytomas to malignant renal cell carcinomas including chromophobe, clear cell or papillary subtypes. Fibrofolliculomas are characterised by a circumscribed proliferation of collagen and fibroblasts surrounding distorted hair follicles from which basaloid cells protrude into the surrounding fibromucinous stroma. Other characteristic skin anomalies are trichodiscomas and acrochordons. Dermatological manifestations usually develop in the third and fourth decades of life and persist indefinitely. The syndrome is transmitted in an autosomal dominant fashion.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
5168746010	Birt Hogg Dubé syndrome	Active	Synonym	false	false
5168747018	Hornstein Knickenberg syndrome	Active	Synonym	false	false
5168749015	Fibrofolliculomas with trichodiscomas and acrochordons	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 } Chronic disease of skin (disorder) {128236002 , SNOMED-CT } Hereditary cancer-predisposing syndrome (disorder) {699346009 , SNOMED-CT } Hereditary disorder of the integument (disorder) {363185004 , SNOMED-CT } Multiple fibrofolliculomas (disorder) {110985001 , 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,