778051008: Focal palmoplantar keratoderma with joint keratoses (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin finding\...

\Rough skin (finding)\Rough skin of hands\Focal palmoplantar keratoderma with joint keratoses (disorder)

\Disorder of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Disorder of skin (disorder)\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Disorder of skin (disorder)\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)

\Finding of limb structure\Disorder of extremity (disorder)\Disorder of soft tissue of limb\Disorder of soft tissue of lower limb\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of soft tissue of limb\Disorder of soft tissue of upper limb\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Disorder of soft tissue of upper limb\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Disorder of soft tissue of lower limb\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Finding of limb structure\Finding of lower limb\Finding of ankle or foot (finding)\Finding of foot region\Disorder of foot (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Disorder of soft tissue of lower limb\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper extremity (disorder)\Disorder of soft tissue of upper limb\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Rough skin of hands\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)

\General finding of soft tissue\Skin finding\Rough skin (finding)\Rough skin of hands\Focal palmoplantar keratoderma with joint keratoses (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of limb\Disorder of soft tissue of lower limb\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of limb\Disorder of soft tissue of upper limb\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)

\Functional finding\Abnormal keratinization\...

\Rough skin (finding)\Rough skin of hands\Focal palmoplantar keratoderma with joint keratoses (disorder)

\Disorder of keratinisation\Inherited disorder of keratinisation\Focal palmoplantar keratoderma with joint keratoses (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Integumentary system finding\Skin finding\Rough skin (finding)\Rough skin of hands\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Integumentary system finding\Abnormal keratinization\Rough skin (finding)\Rough skin of hands\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinisation\Focal palmoplantar keratoderma with joint keratoses (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Disease\Keratosis\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of soft tissue of limb\Disorder of soft tissue of lower limb\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of soft tissue of limb\Disorder of soft tissue of upper limb\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Disorder of soft tissue of upper limb\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Disorder of soft tissue of lower limb\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Disease\Disorder of soft tissue\Disorder of soft tissue of limb\Disorder of soft tissue of lower limb\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Disease\Disorder of soft tissue\Disorder of soft tissue of limb\Disorder of soft tissue of upper limb\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Focal palmoplantar keratoderma with joint keratoses (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3737517018 Focal palmoplantar keratoderma with joint keratoses (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3737518011 Focal palmoplantar keratoderma with joint keratoses en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3737519015 A rare genetic isolated palmoplantar keratoderma disorder with characteristics of focal hyperkeratotic lesions affecting the pressure and mechanical trauma bearing areas of the palms and soles, as well as hyperkeratotic plaques involving joints, including knees, elbows, ankles and dorsa of interphalangeal joints. Caused by heterozygous mutation in the DSG1 gene on chromosome 18q12. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

915611000172119 kératodermie palmoplantaire focale avec kératose localisée aux articulations fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Focal palmoplantar keratoderma with joint keratoses (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Focal palmoplantar keratoderma with joint keratoses (disorder)	Is a	Hereditary palmoplantar keratoderma	true	Inferred relationship	Some
Focal palmoplantar keratoderma with joint keratoses (disorder)	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Focal palmoplantar keratoderma with joint keratoses (disorder)	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	1
Focal palmoplantar keratoderma with joint keratoses (disorder)	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Focal palmoplantar keratoderma with joint keratoses (disorder)	Interprets	Keratinization	true	Inferred relationship	Some	2
Focal palmoplantar keratoderma with joint keratoses (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	1
Focal palmoplantar keratoderma with joint keratoses (disorder)	Finding site	Skin structure of palmar area of hand	true	Inferred relationship	Some	3
Focal palmoplantar keratoderma with joint keratoses (disorder)	Is a	Inherited disorder of keratinisation	true	Inferred relationship	Some
Focal palmoplantar keratoderma with joint keratoses (disorder)	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	3
Focal palmoplantar keratoderma with joint keratoses (disorder)	Is a	Keratosis	false	Inferred relationship	Some
Focal palmoplantar keratoderma with joint keratoses (disorder)	Finding site	Skin structure of sole of foot (body structure)	true	Inferred relationship	Some	1
Focal palmoplantar keratoderma with joint keratoses (disorder)	Is a	Rough skin (finding)	false	Inferred relationship	Some
Focal palmoplantar keratoderma with joint keratoses (disorder)	Is a	Rough skin of hands	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3737517018	Focal palmoplantar keratoderma with joint keratoses (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3737518011	Focal palmoplantar keratoderma with joint keratoses	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3737519015	A rare genetic isolated palmoplantar keratoderma disorder with characteristics of focal hyperkeratotic lesions affecting the pressure and mechanical trauma bearing areas of the palms and soles, as well as hyperkeratotic plaques involving joints, including knees, elbows, ankles and dorsa of interphalangeal joints. Caused by heterozygous mutation in the DSG1 gene on chromosome 18q12.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
915611000172119	kératodermie palmoplantaire focale avec kératose localisée aux articulations	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module