778051008: Focal palmoplantar keratoderma with joint keratoses (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Rough skin\Rough skin of hands\Focal palmoplantar keratoderma with joint keratoses

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

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

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

\Functional finding\Abnormal keratinisation\...

\Rough skin\Rough skin of hands\Focal palmoplantar keratoderma with joint keratoses

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

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

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

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3737518011 Focal palmoplantar keratoderma with joint keratoses en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3737517018	Focal palmoplantar keratoderma with joint keratoses (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3737518011	Focal palmoplantar keratoderma with joint keratoses	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core