239066003: Hereditary palmoplantar keratoderma (disorder)

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

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

\Keratoderma (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma

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

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

\Finding of limb structure (finding)\Disorder of limb\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
\Finding of limb structure (finding)\Disorder of limb\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
\Finding of limb structure (finding)\Disorder of 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
\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma
\Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma
\Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Disorder of soft tissue of lower limb\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma
\Finding of limb structure (finding)\Finding of lower limb (finding)\Finding of ankle or foot (finding)\Finding of foot region\Disorder of foot (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma
\Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma
\Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Disorder of soft tissue of lower limb\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma
\Finding of limb structure (finding)\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
\Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma
\Finding of limb structure (finding)\Finding of upper limb\Finding of hand region (finding)\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Keratoderma (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma
\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
\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
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma
\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
\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

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\Hereditary palmoplantar keratoderma
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma
\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
\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
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Keratoderma (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma

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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary palmoplantar keratoderma	Is a	Inherited disorder of keratinisation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary palmoplantar keratoderma	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary palmoplantar keratoderma	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary palmoplantar keratoderma	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary palmoplantar keratoderma	Has definitional manifestation	Abnormal keratinization	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary palmoplantar keratoderma	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary palmoplantar keratoderma	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary palmoplantar keratoderma	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hereditary palmoplantar keratoderma	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hereditary palmoplantar keratoderma	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hereditary palmoplantar keratoderma	Is a	Palmoplantar keratoderma	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary palmoplantar keratoderma	Associated morphology	Hyperkeratosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary palmoplantar keratoderma	Has interpretation	Abnormal	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hereditary palmoplantar keratoderma	Interprets	Keratinisation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hereditary palmoplantar keratoderma	Is a	Hereditary disorder of the integument (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary palmoplantar keratoderma	Finding site	Skin structure of sole of foot (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hereditary palmoplantar keratoderma	Finding site	Skin structure of palmar area of hand	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hereditary palmoplantar keratoderma	Associated morphology	Hyperkeratosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Epidermolytic palmoplantar keratoderma of Vorner	Is a	False	Hereditary palmoplantar keratoderma	Inferred relationship	Existential restriction modifier (core metadata concept)
A hereditary palmoplantar keratoderma with characteristics of the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.	Is a	True	Hereditary palmoplantar keratoderma	Inferred relationship	Existential restriction modifier (core metadata concept)
Mutilating keratoderma	Is a	True	Hereditary palmoplantar keratoderma	Inferred relationship	Existential restriction modifier (core metadata concept)
Keratosis palmaris et plantaris	Is a	False	Hereditary palmoplantar keratoderma	Inferred relationship	Existential restriction modifier (core metadata concept)
Papillon-Lefèvre syndrome	Is a	False	Hereditary palmoplantar keratoderma	Inferred relationship	Existential restriction modifier (core metadata concept)
A form of diffuse palmoplantar keratoderma that occurs between the ages of 5 and 15 and may be associated with the subsequent development of oesophageal cancer.	Is a	True	Hereditary palmoplantar keratoderma	Inferred relationship	Existential restriction modifier (core metadata concept)
Circumscribed palmoplantar keratoderma	Is a	True	Hereditary palmoplantar keratoderma	Inferred relationship	Existential restriction modifier (core metadata concept)
Palmoplantar keratoderma with leukoplakia (disorder)	Is a	False	Hereditary palmoplantar keratoderma	Inferred relationship	Existential restriction modifier (core metadata concept)
Papuloverrucous palmoplantar keratoderma of Jakac-Wolf	Is a	True	Hereditary palmoplantar keratoderma	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary diffuse palmoplantar keratoderma	Is a	True	Hereditary palmoplantar keratoderma	Inferred relationship	Existential restriction modifier (core metadata concept)
Punctate palmoplantar keratoderma (disorder)	Is a	True	Hereditary palmoplantar keratoderma	Inferred relationship	Existential restriction modifier (core metadata concept)
Palmoplantar hyperkeratosis-hyperpigmentation syndrome of Cantu (disorder)	Is a	True	Hereditary palmoplantar keratoderma	Inferred relationship	Existential restriction modifier (core metadata concept)
Keratoderma with deafness	Is a	False	Hereditary palmoplantar keratoderma	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)	Is a	True	Hereditary palmoplantar keratoderma	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.	Is a	True	Hereditary palmoplantar keratoderma	Inferred relationship	Existential restriction modifier (core metadata concept)
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder)	Is a	True	Hereditary palmoplantar keratoderma	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic ectodermal dysplasia syndrome characterised by woolly hair (presenting at birth), palmoplantar keratoderma (developing in the first year of life) and dilated cardiomyopathy with predominant left ventricle involvement (developing in childhood) which can lead to life-threatening heart failure in childhood or adolescence.	Is a	True	Hereditary palmoplantar keratoderma	Inferred relationship	Existential restriction modifier (core metadata concept)
Palmoplantar keratoderma with deafness syndrome (disorder)	Is a	True	Hereditary palmoplantar keratoderma	Inferred relationship	Existential restriction modifier (core metadata concept)
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder)	Is a	True	Hereditary palmoplantar keratoderma	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder)	Is a	True	Hereditary palmoplantar keratoderma	Inferred relationship	Existential restriction modifier (core metadata concept)
Wooly hair with palmoplantar keratoderma syndrome	Is a	True	Hereditary palmoplantar keratoderma	Inferred relationship	Existential restriction modifier (core metadata concept)
Striate palmoplantar keratoderma	Is a	False	Hereditary palmoplantar keratoderma	Inferred relationship	Existential restriction modifier (core metadata concept)
Focal palmoplantar and gingival keratoderma (disorder)	Is a	False	Hereditary palmoplantar keratoderma	Inferred relationship	Existential restriction modifier (core metadata concept)
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome	Is a	True	Hereditary palmoplantar keratoderma	Inferred relationship	Existential restriction modifier (core metadata concept)
Focal palmoplantar keratoderma with joint keratoses	Is a	True	Hereditary palmoplantar keratoderma	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering	Is a	True	Hereditary palmoplantar keratoderma	Inferred relationship	Existential restriction modifier (core metadata concept)
Hidrotic ectodermal dysplasia syndrome	Is a	True	Hereditary palmoplantar keratoderma	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients may be asymptomatic or present mild to moderate back pain. There have been no further descriptions in the literature since 1969.	Is a	True	Hereditary palmoplantar keratoderma	Inferred relationship	Existential restriction modifier (core metadata concept)
Pachyonychia congenita syndrome	Is a	True	Hereditary palmoplantar keratoderma	Inferred relationship	Existential restriction modifier (core metadata concept)
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)	Is a	True	Hereditary palmoplantar keratoderma	Inferred relationship	Existential restriction modifier (core metadata concept)
Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome (disorder)	Is a	True	Hereditary palmoplantar keratoderma	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
358268010	Hereditary palmoplantar keratoderma	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
628032019	Hereditary palmoplantar keratoderma (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
358268010	Hereditary palmoplantar keratoderma	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
358268010	Hereditary palmoplantar keratoderma	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
628032019	Hereditary palmoplantar keratoderma (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
628032019	Hereditary palmoplantar keratoderma (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3434141001000113	Palmoplantarkeratose, hereditäre	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
885271000172115	kératodermie palmoplantaire héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
890441000172115	hypekératose palmoplantaire héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
885271000172115	kératodermie palmoplantaire héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
890441000172115	hypekératose palmoplantaire héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3434141001000113	Palmoplantarkeratose, hereditäre	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module