716105001: Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (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\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type

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

\Disorder of skin of upper limb\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type

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

\General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type
\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\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type
\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\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type
\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\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type
\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\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type
\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\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type
\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\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type
\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\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type
\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\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type
\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\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type
\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\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type
\Disease\Keratosis\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type
\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\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type
\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\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type
\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\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type
\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\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type
\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\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type
\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\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type
\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\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type
\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\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type
\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\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type
\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\Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type

Status: current, Primitive. 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 Initial character case insensitive SNOMED CT core

3304750017 Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type en Synonym Active Initial character case insensitive SNOMED CT core

3304751018 Non-epidermolytic palmoplantar keratoderma en Synonym Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type	Finding site	Skin structure of sole of foot	false	Inferred relationship	Some	1
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	1
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type	Finding site	Skin structure of palmar area of hand	false	Inferred relationship	Some	2
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	2
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type	Finding site	Entire skin of palmar area of hand	true	Inferred relationship	Some	1
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type	Finding site	Entire skin of sole of foot	true	Inferred relationship	Some	2
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type	Is a	Hereditary diffuse palmoplantar keratoderma	true	Inferred relationship	Some
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type	Has definitional manifestation	Abnormal keratinisation	false	Inferred relationship	Some
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type	Finding site	Skin structure	false	Inferred relationship	Some	3
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type	Finding site	Skin structure	false	Inferred relationship	Some	4
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type	Occurrence	Congenital	false	Inferred relationship	Some	3
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type	Associated morphology	Hyperkeratosis	false	Inferred relationship	Some	4
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type	Has interpretation	Abnormal	false	Inferred relationship	Some	1
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type	Interprets	Keratinisation	false	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
3304749017	Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3304750017	Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3304751018	Non-epidermolytic palmoplantar keratoderma	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core