717184007: Punctate palmoplantar keratoderma type 1 (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\...

\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (disorder)

\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (disorder)

\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (disorder)

\Finding of limb structure\Disorder of limb (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\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (disorder)
\Finding of limb structure\Disorder of limb (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\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of soft tissue of upper limb\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of soft tissue of lower limb\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (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\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (disorder)
\Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (disorder)
\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 (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of soft tissue of upper limb\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (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\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (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\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (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\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (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\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (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\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (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\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (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\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (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\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Punctate palmoplantar keratoderma type 1 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (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\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (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\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (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\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (disorder)
\Disease\Keratosis\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (disorder)
\Disease\Disorder of limb (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\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (disorder)
\Disease\Disorder of limb (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\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of soft tissue of upper limb\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (disorder)
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (disorder)
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of soft tissue of lower limb\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (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\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (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\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (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\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (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\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3308619016 Punctate palmoplantar keratoderma type 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3308620010 Punctate palmoplantar keratoderma type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3308621014 Buschke Fischer Brauer syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3308622019 Keratodermia palmoplantaris papulosa Buschke Fischer Brauer type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5401499019 A rare hereditary skin disease characterized by irregularly distributed epidermal papular/punctate hyperkeratosis of the palms and soles with wide variation among patients. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401500011 A rare hereditary skin disease characterised by irregularly distributed epidermal papular/punctate hyperkeratosis of the palms and soles with wide variation among patients. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Punctate palmoplantar keratoderma type 1 (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Punctate palmoplantar keratoderma type 1 (disorder)	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Punctate palmoplantar keratoderma type 1 (disorder)	Is a	Punctate palmoplantar keratoderma (disorder)	true	Inferred relationship	Some
Punctate palmoplantar keratoderma type 1 (disorder)	Has definitional manifestation	Abnormal keratinization	false	Inferred relationship	Some
Punctate palmoplantar keratoderma type 1 (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	3
Punctate palmoplantar keratoderma type 1 (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	4
Punctate palmoplantar keratoderma type 1 (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	3
Punctate palmoplantar keratoderma type 1 (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Punctate palmoplantar keratoderma type 1 (disorder)	Associated morphology	Hyperkeratosis	false	Inferred relationship	Some	4
Punctate palmoplantar keratoderma type 1 (disorder)	Has interpretation	Abnormal	false	Inferred relationship	Some	1
Punctate palmoplantar keratoderma type 1 (disorder)	Interprets	Keratinization	false	Inferred relationship	Some	1
Punctate palmoplantar keratoderma type 1 (disorder)	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	2
Punctate palmoplantar keratoderma type 1 (disorder)	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	1
Punctate palmoplantar keratoderma type 1 (disorder)	Finding site	Skin structure of palmar area of hand	true	Inferred relationship	Some	2
Punctate palmoplantar keratoderma type 1 (disorder)	Finding site	Skin structure of sole of foot (body structure)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3308619016	Punctate palmoplantar keratoderma type 1 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308620010	Punctate palmoplantar keratoderma type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308621014	Buschke Fischer Brauer syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3308622019	Keratodermia palmoplantaris papulosa Buschke Fischer Brauer type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5401499019	A rare hereditary skin disease characterized by irregularly distributed epidermal papular/punctate hyperkeratosis of the palms and soles with wide variation among patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401500011	A rare hereditary skin disease characterised by irregularly distributed epidermal papular/punctate hyperkeratosis of the palms and soles with wide variation among patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core