716105001: Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)

\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)

\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)
\Finding of limb structure\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)
\Disease\Keratosis\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)
\Disease\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (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

3304749017 Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3304750017 Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3304751018 Non-epidermolytic palmoplantar keratoderma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3304752013 This syndrome has manifestation of a diffuse non-epidermolytic palmoplantar keratoderma with frequent fungal infections. Prevalence in the general population is estimated at 1 in 40,000 but is much higher in northern Sweden. Transmission is autosomal dominant and the causative gene has been localised to chromosome 12q11-q13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3304802010 This syndrome has manifestation of a diffuse non-epidermolytic palmoplantar keratoderma with frequent fungal infections. Prevalence in the general population is estimated at 1 in 40,000 but is much higher in northern Sweden. Transmission is autosomal dominant and the causative gene has been localized to chromosome 12q11-q13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3876881000052118 autosomal dominant diffus palmoplantar keratodermi, Norrbottentyp sv Synonym (core metadata concept) Active Only initial character 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
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)	Is a	Hereditary diffuse palmoplantar keratoderma (disorder)	true	Inferred relationship	Some
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)	Has definitional manifestation	Abnormal keratinization	false	Inferred relationship	Some
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	3
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	4
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	3
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)	Associated morphology	Hyperkeratosis	false	Inferred relationship	Some	4
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)	Has interpretation	Abnormal	false	Inferred relationship	Some	1
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)	Interprets	Keratinization	false	Inferred relationship	Some	1
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)	Finding site	Skin structure of sole of foot (body structure)	false	Inferred relationship	Some	1
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	1
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)	Finding site	Skin structure of palmar area of hand	false	Inferred relationship	Some	2
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	2
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)	Finding site	Entire skin of palmar area of hand	true	Inferred relationship	Some	1
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)	Finding site	Entire skin of sole of foot	true	Inferred relationship	Some	2

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
3304749017	Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3304750017	Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3304751018	Non-epidermolytic palmoplantar keratoderma	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304752013	This syndrome has manifestation of a diffuse non-epidermolytic palmoplantar keratoderma with frequent fungal infections. Prevalence in the general population is estimated at 1 in 40,000 but is much higher in northern Sweden. Transmission is autosomal dominant and the causative gene has been localised to chromosome 12q11-q13.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3304802010	This syndrome has manifestation of a diffuse non-epidermolytic palmoplantar keratoderma with frequent fungal infections. Prevalence in the general population is estimated at 1 in 40,000 but is much higher in northern Sweden. Transmission is autosomal dominant and the causative gene has been localized to chromosome 12q11-q13.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3876881000052118	autosomal dominant diffus palmoplantar keratodermi, Norrbottentyp	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)