722203001: Palmoplantar keratoderma with deafness syndrome (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\Palmoplantar keratoderma with deafness syndrome (disorder)

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

\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma with deafness syndrome (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\Palmoplantar keratoderma with deafness syndrome (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\Palmoplantar keratoderma with deafness syndrome (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\Palmoplantar keratoderma with deafness syndrome (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma with deafness syndrome (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\Palmoplantar keratoderma with deafness syndrome (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\Palmoplantar keratoderma with deafness syndrome (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\Palmoplantar keratoderma with deafness syndrome (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\Palmoplantar keratoderma with deafness syndrome (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\Palmoplantar keratoderma with deafness syndrome (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\Palmoplantar keratoderma with deafness syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma with deafness syndrome (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma with deafness syndrome (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma with deafness syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma with deafness syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma with deafness syndrome (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\Palmoplantar keratoderma with deafness syndrome (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\Palmoplantar keratoderma with deafness syndrome (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\Palmoplantar keratoderma with deafness syndrome (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\Palmoplantar keratoderma with deafness syndrome (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\Palmoplantar keratoderma with deafness syndrome (disorder)

\Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Palmoplantar keratoderma with deafness syndrome (disorder)
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Palmoplantar keratoderma with deafness syndrome (disorder)
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Palmoplantar keratoderma with deafness syndrome (disorder)

\Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Palmoplantar keratoderma with deafness syndrome (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma with deafness syndrome (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\Palmoplantar keratoderma with deafness syndrome (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\Palmoplantar keratoderma with deafness syndrome (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\Palmoplantar keratoderma with deafness syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma with deafness syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma with deafness syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma with deafness syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma with deafness syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Palmoplantar keratoderma with deafness syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Palmoplantar keratoderma with deafness syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma with deafness syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Palmoplantar keratoderma with deafness syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Palmoplantar keratoderma with deafness syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Palmoplantar keratoderma with deafness syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma with deafness syndrome (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\Palmoplantar keratoderma with deafness syndrome (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\Palmoplantar keratoderma with deafness syndrome (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\Palmoplantar keratoderma with deafness syndrome (disorder)
\Disease\Keratosis\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma with deafness syndrome (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\Palmoplantar keratoderma with deafness syndrome (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\Palmoplantar keratoderma with deafness syndrome (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\Palmoplantar keratoderma with deafness syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma with deafness syndrome (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\Palmoplantar keratoderma with deafness syndrome (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\Palmoplantar keratoderma with deafness syndrome (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\Palmoplantar keratoderma with deafness syndrome (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\Palmoplantar keratoderma with deafness syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma with deafness syndrome (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\Palmoplantar keratoderma with deafness syndrome (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\Palmoplantar keratoderma with deafness syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3331138017 Palmoplantar keratoderma with deafness syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3331139013 Palmoplantar keratoderma with deafness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3331140010 A keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenar, hypothenar and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. The disease is transmitted in an autosomal dominant manner with incomplete penetrance. Caused by heterozygous mutation in the gene encoding connexin-26 (GJB2; 121011) on chromosome 13q12. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3331141014 A keratinisation disorder characterised by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenar, hypothenar and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. The disease is transmitted in an autosomal dominant manner with incomplete penetrance. Caused by heterozygous mutation in the gene encoding connexin-26 (GJB2; 121011) on chromosome 13q12. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3889871000052118 syndrom med palmoplantar keratodermi och dövhet 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
Palmoplantar keratoderma with deafness syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Palmoplantar keratoderma with deafness syndrome (disorder)	Is a	Sensorineural hearing loss	true	Inferred relationship	Some
Palmoplantar keratoderma with deafness syndrome (disorder)	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Palmoplantar keratoderma with deafness syndrome (disorder)	Is a	Hereditary palmoplantar keratoderma	true	Inferred relationship	Some
Palmoplantar keratoderma with deafness syndrome (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Palmoplantar keratoderma with deafness syndrome (disorder)	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Palmoplantar keratoderma with deafness syndrome (disorder)	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	3
Palmoplantar keratoderma with deafness syndrome (disorder)	Has definitional manifestation	Abnormal keratinization	false	Inferred relationship	Some
Palmoplantar keratoderma with deafness syndrome (disorder)	Interprets	Hearing	true	Inferred relationship	Some	4
Palmoplantar keratoderma with deafness syndrome (disorder)	Interprets	observabel som rör funktion	false	Inferred relationship	Some
Palmoplantar keratoderma with deafness syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Palmoplantar keratoderma with deafness syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	6
Palmoplantar keratoderma with deafness syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	7
Palmoplantar keratoderma with deafness syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	7
Palmoplantar keratoderma with deafness syndrome (disorder)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	6
Palmoplantar keratoderma with deafness syndrome (disorder)	Associated morphology	Hyperkeratosis	false	Inferred relationship	Some	7
Palmoplantar keratoderma with deafness syndrome (disorder)	Interprets	Keratinization	false	Inferred relationship	Some	2
Palmoplantar keratoderma with deafness syndrome (disorder)	Has interpretation	Abnormal	false	Inferred relationship	Some	2
Palmoplantar keratoderma with deafness syndrome (disorder)	Finding site	Skin structure of sole of foot (body structure)	true	Inferred relationship	Some	2
Palmoplantar keratoderma with deafness syndrome (disorder)	Finding site	Skin structure of palmar area of hand	true	Inferred relationship	Some	5
Palmoplantar keratoderma with deafness syndrome (disorder)	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	2
Palmoplantar keratoderma with deafness syndrome (disorder)	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	5
Palmoplantar keratoderma with deafness syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3331138017	Palmoplantar keratoderma with deafness syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331139013	Palmoplantar keratoderma with deafness syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331140010	A keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenar, hypothenar and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. The disease is transmitted in an autosomal dominant manner with incomplete penetrance. Caused by heterozygous mutation in the gene encoding connexin-26 (GJB2; 121011) on chromosome 13q12.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3331141014	A keratinisation disorder characterised by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenar, hypothenar and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. The disease is transmitted in an autosomal dominant manner with incomplete penetrance. Caused by heterozygous mutation in the gene encoding connexin-26 (GJB2; 121011) on chromosome 13q12.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3889871000052118	syndrom med palmoplantar keratodermi och dövhet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)