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 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\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (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\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (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\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of upper extremity (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 extremity (disorder)\Disorder of lower extremity (disorder)\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 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\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 extremity (disorder)\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 extremity (disorder)\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 extremity (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 extremity (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 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\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (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\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (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\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (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\Punctate palmoplantar keratoderma (disorder)\Punctate palmoplantar keratoderma type 1 (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\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

3308623012 A very rare hereditary skin disease with manifestation of irregularly distributed epidermal hyperkeratosis of the palms and soles. Reported in 35 families worldwide to date. The lesions usually start to develop in early adolescence but can also present later in life. Mutations in the AAGAB gene (15q22.33-q23) have recently been identified as one of the causes. Mutations in the COL14A1 gene (8q23) have also been identified as causal in some cases in Asia that seem to have a similar phenotype en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3864381000052113 punktformig palmoplantar keratodermi typ 1 sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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	utvecklingsabnormitet	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

Description inactivation indicator reference set

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
3308623012	A very rare hereditary skin disease with manifestation of irregularly distributed epidermal hyperkeratosis of the palms and soles. Reported in 35 families worldwide to date. The lesions usually start to develop in early adolescence but can also present later in life. Mutations in the AAGAB gene (15q22.33-q23) have recently been identified as one of the causes. Mutations in the COL14A1 gene (8q23) have also been identified as causal in some cases in Asia that seem to have a similar phenotype	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3864381000052113	punktformig palmoplantar keratodermi typ 1	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)