717228004: Hereditary palmoplantar keratoderma Gamborg Nielsen 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)\Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder)

\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder)

\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Hereditary palmoplantar keratoderma Gamborg Nielsen type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Hereditary palmoplantar keratoderma Gamborg Nielsen type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Hereditary palmoplantar keratoderma Gamborg Nielsen type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Hereditary palmoplantar keratoderma Gamborg Nielsen type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Hereditary palmoplantar keratoderma Gamborg Nielsen type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Hereditary palmoplantar keratoderma Gamborg Nielsen 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)\Hereditary palmoplantar keratoderma Gamborg Nielsen type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Hereditary palmoplantar keratoderma Gamborg Nielsen type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Hereditary palmoplantar keratoderma Gamborg Nielsen type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Hereditary palmoplantar keratoderma Gamborg Nielsen 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)\Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Hereditary palmoplantar keratoderma Gamborg Nielsen 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)\Hereditary palmoplantar keratoderma Gamborg Nielsen 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)\Hereditary palmoplantar keratoderma Gamborg Nielsen 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)\Hereditary palmoplantar keratoderma Gamborg Nielsen 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)\Hereditary palmoplantar keratoderma Gamborg Nielsen 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)\Hereditary palmoplantar keratoderma Gamborg Nielsen 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)\Hereditary palmoplantar keratoderma Gamborg Nielsen 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)\Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Hereditary palmoplantar keratoderma Gamborg Nielsen 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)\Hereditary palmoplantar keratoderma Gamborg Nielsen 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)\Hereditary palmoplantar keratoderma Gamborg Nielsen 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)\Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Hereditary palmoplantar keratoderma Gamborg Nielsen 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)\Hereditary palmoplantar keratoderma Gamborg Nielsen 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)\Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Hereditary palmoplantar keratoderma Gamborg Nielsen 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)\Hereditary palmoplantar keratoderma Gamborg Nielsen 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)\Hereditary palmoplantar keratoderma Gamborg Nielsen 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)\Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder)
\Disease\Keratosis\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Hereditary palmoplantar keratoderma Gamborg Nielsen type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Hereditary palmoplantar keratoderma Gamborg Nielsen type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Hereditary palmoplantar keratoderma Gamborg Nielsen type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Hereditary diffuse palmoplantar keratoderma (disorder)\Hereditary palmoplantar keratoderma Gamborg Nielsen type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Hereditary palmoplantar keratoderma Gamborg Nielsen type (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\Hereditary diffuse palmoplantar keratoderma (disorder)\Hereditary palmoplantar keratoderma Gamborg Nielsen 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)\Hereditary palmoplantar keratoderma Gamborg Nielsen 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)\Hereditary palmoplantar keratoderma Gamborg Nielsen 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)\Hereditary palmoplantar keratoderma Gamborg Nielsen 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)\Hereditary palmoplantar keratoderma Gamborg Nielsen 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)\Hereditary palmoplantar keratoderma Gamborg Nielsen 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

3308744016 Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3308745015 Hereditary palmoplantar keratoderma Gamborg Nielsen type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5401519018 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterized by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401520012 Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive. 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
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder)	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder)	Is a	Hereditary diffuse palmoplantar keratoderma (disorder)	true	Inferred relationship	Some
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder)	Has definitional manifestation	Abnormal keratinization	false	Inferred relationship	Some
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	3
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	4
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	3
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder)	Associated morphology	Hyperkeratosis	false	Inferred relationship	Some	4
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder)	Has interpretation	Abnormal	false	Inferred relationship	Some	1
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder)	Interprets	Keratinization	false	Inferred relationship	Some	1
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder)	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	2
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder)	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	1
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder)	Finding site	Skin structure of sole of foot (body structure)	false	Inferred relationship	Some	1
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder)	Finding site	Skin structure of palmar area of hand	false	Inferred relationship	Some	2
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder)	Finding site	Entire skin of palmar area of hand	true	Inferred relationship	Some	1
Hereditary palmoplantar keratoderma Gamborg Nielsen 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

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

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Id	Description	Lang	Type	Status	Case?	Module
3308744016	Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308745015	Hereditary palmoplantar keratoderma Gamborg Nielsen type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5401519018	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterized by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401520012	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core