1222645005: Keratin 1-related diffuse nonepidermolytic palmoplantar keratoderma (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\...

\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma

\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma

\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma

\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\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\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\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\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\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\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\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\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\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\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\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\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\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\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\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma

\General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\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\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\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\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\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\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\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\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\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\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\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\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\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\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin of lower limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\KRT1-related diffuse nonepidermolytic keratoderma
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\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\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\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\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\Disease\Keratosis\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\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\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\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\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\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\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\Disease\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of foot\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\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\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\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\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\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\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\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\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma
\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\Hereditary diffuse palmoplantar keratoderma\KRT1-related diffuse nonepidermolytic keratoderma

Status: current, Primitive. Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5048280017 KRT1-related diffuse nonepidermolytic keratoderma en Synonym Active Case sensitive SNOMED CT core

5048281018 Keratin 1-related diffuse nonepidermolytic palmoplantar keratoderma (disorder) en Fully specified name Active Case insensitive SNOMED CT core

5048283015 Keratin 1-related diffuse nonepidermolytic palmoplantar keratoderma en Synonym Active Case insensitive SNOMED CT core

5048284014 KRT1-related diffuse NEPPK (nonepidermolytic palmoplantar keratoderma) en Synonym Active Case sensitive SNOMED CT core

5048285010 A rare genetic isolated diffuse palmoplantar keratoderma with characteristics of diffuse, mild to thick finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areola, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
KRT1-related diffuse nonepidermolytic keratoderma	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
KRT1-related diffuse nonepidermolytic keratoderma	Is a	Hereditary diffuse palmoplantar keratoderma	true	Inferred relationship	Some
KRT1-related diffuse nonepidermolytic keratoderma	Finding site	Entire skin of palmar area of hand	true	Inferred relationship	Some	1
KRT1-related diffuse nonepidermolytic keratoderma	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	1
KRT1-related diffuse nonepidermolytic keratoderma	Finding site	Entire skin of sole of foot	true	Inferred relationship	Some	2
KRT1-related diffuse nonepidermolytic keratoderma	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

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Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
5048280017	KRT1-related diffuse nonepidermolytic keratoderma	en	Synonym	Active	Case sensitive	SNOMED CT core
5048281018	Keratin 1-related diffuse nonepidermolytic palmoplantar keratoderma (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5048283015	Keratin 1-related diffuse nonepidermolytic palmoplantar keratoderma	en	Synonym	Active	Case insensitive	SNOMED CT core
5048284014	KRT1-related diffuse NEPPK (nonepidermolytic palmoplantar keratoderma)	en	Synonym	Active	Case sensitive	SNOMED CT core
5048285010	A rare genetic isolated diffuse palmoplantar keratoderma with characteristics of diffuse, mild to thick finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areola, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis.	en	Definition	Active	Case sensitive	SNOMED CT core