1263460007: Birt Hogg Dubé syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neoplasm of skin\Neoplasm of skin region\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neoplasm of skin\Neoplasm of skin with adnexal differentiation\Tumour of skin with pilar differentiation\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neoplasm of skin\Neoplasm of skin with adnexal differentiation\Benign neoplasm of adnexa of skin\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neoplasm of skin\Benign neoplasm of skin\Benign neoplasm of adnexa of skin\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Skin AND/OR mucosa finding\Skin finding\Mass of skin\Neoplasm of skin\Neoplasm of skin region\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Skin AND/OR mucosa finding\Skin finding\Mass of skin\Neoplasm of skin\Neoplasm of skin with adnexal differentiation\Tumour of skin with pilar differentiation\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Skin AND/OR mucosa finding\Skin finding\Mass of skin\Neoplasm of skin\Neoplasm of skin with adnexal differentiation\Benign neoplasm of adnexa of skin\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Skin AND/OR mucosa finding\Skin finding\Mass of skin\Neoplasm of skin\Benign neoplasm of skin\Benign neoplasm of adnexa of skin\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Skin AND/OR mucosa finding\Skin finding\Hair follicle finding\Hair follicle disorder\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Disorder of skin appendage\Hair follicle disorder\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Chronic disease of skin\Birt Hogg Dubé syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Neoplasm of skin\Neoplasm of skin region\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Neoplasm of skin\Neoplasm of skin with adnexal differentiation\Tumour of skin with pilar differentiation\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Neoplasm of skin\Neoplasm of skin with adnexal differentiation\Benign neoplasm of adnexa of skin\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Neoplasm of skin\Benign neoplasm of skin\Benign neoplasm of adnexa of skin\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome

\Integumentary system finding\Disorder of integument\Neoplasm of integumentary system\Neoplasm of skin\Neoplasm of skin region\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Integumentary system finding\Disorder of integument\Neoplasm of integumentary system\Neoplasm of skin\Neoplasm of skin with adnexal differentiation\Tumour of skin with pilar differentiation\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Integumentary system finding\Disorder of integument\Neoplasm of integumentary system\Neoplasm of skin\Neoplasm of skin with adnexal differentiation\Benign neoplasm of adnexa of skin\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Integumentary system finding\Disorder of integument\Neoplasm of integumentary system\Neoplasm of skin\Benign neoplasm of skin\Benign neoplasm of adnexa of skin\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Birt Hogg Dubé syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Hair follicle disorder\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Chronic disease of skin\Birt Hogg Dubé syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neoplasm of skin region\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neoplasm of skin with adnexal differentiation\Tumour of skin with pilar differentiation\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neoplasm of skin with adnexal differentiation\Benign neoplasm of adnexa of skin\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Benign neoplasm of skin\Benign neoplasm of adnexa of skin\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Integumentary system finding\Skin finding\Mass of skin\Neoplasm of skin\Neoplasm of skin region\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Integumentary system finding\Skin finding\Mass of skin\Neoplasm of skin\Neoplasm of skin with adnexal differentiation\Tumour of skin with pilar differentiation\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Integumentary system finding\Skin finding\Mass of skin\Neoplasm of skin\Neoplasm of skin with adnexal differentiation\Benign neoplasm of adnexa of skin\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Integumentary system finding\Skin finding\Mass of skin\Neoplasm of skin\Benign neoplasm of skin\Benign neoplasm of adnexa of skin\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Integumentary system finding\Skin finding\Hair follicle finding\Hair follicle disorder\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Hair follicle disorder\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Chronic disease of skin\Birt Hogg Dubé syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Neoplasm of skin\Neoplasm of skin region\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Neoplasm of skin\Neoplasm of skin with adnexal differentiation\Tumour of skin with pilar differentiation\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Neoplasm of skin\Neoplasm of skin with adnexal differentiation\Benign neoplasm of adnexa of skin\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Neoplasm of skin\Benign neoplasm of skin\Benign neoplasm of adnexa of skin\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary neoplastic syndrome\Birt Hogg Dubé syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Birt Hogg Dubé syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Birt Hogg Dubé syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of integumentary system\Neoplasm of skin\Neoplasm of skin region\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of integumentary system\Neoplasm of skin\Neoplasm of skin with adnexal differentiation\Tumour of skin with pilar differentiation\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of integumentary system\Neoplasm of skin\Neoplasm of skin with adnexal differentiation\Benign neoplasm of adnexa of skin\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of integumentary system\Neoplasm of skin\Benign neoplasm of skin\Benign neoplasm of adnexa of skin\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of soft tissue\Neoplasm of skin\Neoplasm of skin region\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of soft tissue\Neoplasm of skin\Neoplasm of skin with adnexal differentiation\Tumour of skin with pilar differentiation\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of soft tissue\Neoplasm of skin\Neoplasm of skin with adnexal differentiation\Benign neoplasm of adnexa of skin\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of soft tissue\Neoplasm of skin\Benign neoplasm of skin\Benign neoplasm of adnexa of skin\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of soft tissue\Benign neoplasm of soft tissue\Benign neoplasm of skin\Benign neoplasm of adnexa of skin\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Benign neoplastic disease\Benign neoplasm of soft tissue\Benign neoplasm of skin\Benign neoplasm of adnexa of skin\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Birt Hogg Dubé syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neoplasm of skin\Neoplasm of skin region\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neoplasm of skin\Neoplasm of skin with adnexal differentiation\Tumour of skin with pilar differentiation\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neoplasm of skin\Neoplasm of skin with adnexal differentiation\Benign neoplasm of adnexa of skin\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neoplasm of skin\Benign neoplasm of skin\Benign neoplasm of adnexa of skin\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Disorder of body system\Disorder of integument\Neoplasm of integumentary system\Neoplasm of skin\Neoplasm of skin region\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Disorder of body system\Disorder of integument\Neoplasm of integumentary system\Neoplasm of skin\Neoplasm of skin with adnexal differentiation\Tumour of skin with pilar differentiation\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Disorder of body system\Disorder of integument\Neoplasm of integumentary system\Neoplasm of skin\Neoplasm of skin with adnexal differentiation\Benign neoplasm of adnexa of skin\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Disorder of body system\Disorder of integument\Neoplasm of integumentary system\Neoplasm of skin\Benign neoplasm of skin\Benign neoplasm of adnexa of skin\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Birt Hogg Dubé syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Hair follicle disorder\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Chronic disease of skin\Birt Hogg Dubé syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neoplasm of skin region\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neoplasm of skin with adnexal differentiation\Tumour of skin with pilar differentiation\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neoplasm of skin with adnexal differentiation\Benign neoplasm of adnexa of skin\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Benign neoplasm of skin\Benign neoplasm of adnexa of skin\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Chronic disease\Chronic disease of skin\Birt Hogg Dubé syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue\Neoplasm of skin\Neoplasm of skin region\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue\Neoplasm of skin\Neoplasm of skin with adnexal differentiation\Tumour of skin with pilar differentiation\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue\Neoplasm of skin\Neoplasm of skin with adnexal differentiation\Benign neoplasm of adnexa of skin\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue\Neoplasm of skin\Benign neoplasm of skin\Benign neoplasm of adnexa of skin\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue\Benign neoplasm of soft tissue\Benign neoplasm of skin\Benign neoplasm of adnexa of skin\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin\Neoplasm of skin region\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin\Neoplasm of skin with adnexal differentiation\Tumour of skin with pilar differentiation\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin\Neoplasm of skin with adnexal differentiation\Benign neoplasm of adnexa of skin\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin\Benign neoplasm of skin\Benign neoplasm of adnexa of skin\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Hair follicle disorder\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Chronic disease of skin\Birt Hogg Dubé syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neoplasm of skin region\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neoplasm of skin with adnexal differentiation\Tumour of skin with pilar differentiation\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neoplasm of skin with adnexal differentiation\Benign neoplasm of adnexa of skin\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Benign neoplasm of skin\Benign neoplasm of adnexa of skin\Benign tumour of skin with pilar differentiation\Fibrofolliculoma\Multiple fibrofolliculomas\Birt Hogg Dubé syndrome

Status: current, Primitive. Date: 31-Jan 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5168746010 Birt Hogg Dubé syndrome en Synonym Active Case sensitive SNOMED CT core

5168747018 Hornstein Knickenberg syndrome en Synonym Active Case sensitive SNOMED CT core

5168748011 Birt Hogg Dubé syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

5168749015 Fibrofolliculomas with trichodiscomas and acrochordons en Synonym Active Case insensitive SNOMED CT core

5168750015 A rare inherited cancer-predisposing syndrome characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. The kidney tumors range from benign oncocytomas to malignant renal cell carcinomas including chromophobe, clear cell or papillary subtypes. Fibrofolliculomas are characterized 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. en Definition Active Case sensitive SNOMED CT core

5168751016 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. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Birt Hogg Dubé syndrome	Is a	Multiple fibrofolliculomas	true	Inferred relationship	Some
Birt Hogg Dubé syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Birt Hogg Dubé syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Birt Hogg Dubé syndrome	Is a	Hereditary neoplastic syndrome	true	Inferred relationship	Some
Birt Hogg Dubé syndrome	Finding site	Hair follicle structure	true	Inferred relationship	Some	1
Birt Hogg Dubé syndrome	Associated morphology	Follicular fibroma	true	Inferred relationship	Some	1
Birt Hogg Dubé syndrome	Is a	Chronic disease of skin	true	Inferred relationship	Some
Birt Hogg Dubé syndrome	Clinical course	Chronic persistent	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
5168746010	Birt Hogg Dubé syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5168747018	Hornstein Knickenberg syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5168748011	Birt Hogg Dubé syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
5168749015	Fibrofolliculomas with trichodiscomas and acrochordons	en	Synonym	Active	Case insensitive	SNOMED CT core
5168750015	A rare inherited cancer-predisposing syndrome characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. The kidney tumors range from benign oncocytomas to malignant renal cell carcinomas including chromophobe, clear cell or papillary subtypes. Fibrofolliculomas are characterized 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.	en	Definition	Active	Case sensitive	SNOMED CT core
5168751016	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.	en	Definition	Active	Case sensitive	SNOMED CT core