766928004: Generalized basaloid follicular hamartoma 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\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Basal cell naevus with comedones\Generalised basaloid follicular hamartoma syndrome
\Skin AND/OR mucosa finding\Skin finding\Mass of skin\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Basal cell naevus with comedones\Generalised basaloid follicular hamartoma syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Disorder of skin appendage\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Basal cell naevus with comedones\Generalised basaloid follicular hamartoma syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Basal cell naevus with comedones\Generalised basaloid follicular hamartoma syndrome

\Mass of body structure\Mass of soft tissue\Mass of skin\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Basal cell naevus with comedones\Generalised basaloid follicular hamartoma syndrome
\Mass of body structure\Hamartoma of integument\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Basal cell naevus with comedones\Generalised basaloid follicular hamartoma syndrome
\Mass of body structure\Mass of body region\Mass of skin\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Basal cell naevus with comedones\Generalised basaloid follicular hamartoma syndrome

\General finding of soft tissue\Mass of soft tissue\Mass of skin\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Basal cell naevus with comedones\Generalised basaloid follicular hamartoma syndrome
\General finding of soft tissue\Skin finding\Mass of skin\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Basal cell naevus with comedones\Generalised basaloid follicular hamartoma syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Basal cell naevus with comedones\Generalised basaloid follicular hamartoma syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Basal cell naevus with comedones\Generalised basaloid follicular hamartoma syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Basal cell naevus with comedones\Generalised basaloid follicular hamartoma syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Basal cell naevus with comedones\Generalised basaloid follicular hamartoma syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Basal cell naevus with comedones\Generalised basaloid follicular hamartoma syndrome

\Integumentary system finding\Disorder of integument\Hamartoma of integument\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Basal cell naevus with comedones\Generalised basaloid follicular hamartoma syndrome
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Generalised basaloid follicular hamartoma syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Basal cell naevus with comedones\Generalised basaloid follicular hamartoma syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Basal cell naevus with comedones\Generalised basaloid follicular hamartoma syndrome
\Integumentary system finding\Skin finding\Mass of skin\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Basal cell naevus with comedones\Generalised basaloid follicular hamartoma syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Basal cell naevus with comedones\Generalised basaloid follicular hamartoma syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Basal cell naevus with comedones\Generalised basaloid follicular hamartoma syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Generalised basaloid follicular hamartoma syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Generalised basaloid follicular hamartoma syndrome
\Disease\Neoplasm and/or hamartoma\Hamartoma\Hamartoma of integument\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Basal cell naevus with comedones\Generalised basaloid follicular hamartoma syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Generalised basaloid follicular hamartoma syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Basal cell naevus with comedones\Generalised basaloid follicular hamartoma syndrome
\Disease\Disorder of body system\Disorder of integument\Hamartoma of integument\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Basal cell naevus with comedones\Generalised basaloid follicular hamartoma syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Generalised basaloid follicular hamartoma syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Basal cell naevus with comedones\Generalised basaloid follicular hamartoma syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Basal cell naevus with comedones\Generalised basaloid follicular hamartoma syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Basal cell naevus with comedones\Generalised basaloid follicular hamartoma syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Basal cell naevus with comedones\Generalised basaloid follicular hamartoma syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Hamartoma of skin\Hamartoma of skin appendage\Hamartoma of pilosebaceous apparatus\Basal cell naevus with comedones\Generalised basaloid follicular hamartoma syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3663195013 Generalized basaloid follicular hamartoma syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3663196014 Generalized basaloid follicular hamartoma syndrome en Synonym Active Case insensitive SNOMED CT core

3663197017 Generalised basaloid follicular hamartoma syndrome en Synonym Active Case insensitive SNOMED CT core

3663198010 A rare genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillae and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported. en Definition Active Case sensitive SNOMED CT core

3663199019 A rare genetic skin disease characterised by multiple milium-like, comedone-like lesions and skin-coloured to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillae and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Generalised basaloid follicular hamartoma syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Generalised basaloid follicular hamartoma syndrome	Finding site	Pilosebaceous apparatus structure	true	Inferred relationship	Some	1
Generalised basaloid follicular hamartoma syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Generalised basaloid follicular hamartoma syndrome	Associated morphology	Hamartoma	true	Inferred relationship	Some	1
Generalised basaloid follicular hamartoma syndrome	Is a	Basal cell naevus with comedones	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3663195013	Generalized basaloid follicular hamartoma syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3663196014	Generalized basaloid follicular hamartoma syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3663197017	Generalised basaloid follicular hamartoma syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3663198010	A rare genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillae and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported.	en	Definition	Active	Case sensitive	SNOMED CT core
3663199019	A rare genetic skin disease characterised by multiple milium-like, comedone-like lesions and skin-coloured to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillae and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported.	en	Definition	Active	Case sensitive	SNOMED CT core