1222646006: syndroom van keratosis palmoplantaris en hereditaire motorische en sensorische neuropathie (aandoening)

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

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

\Hyperplasia of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)

\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)

\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy 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, hereditary motor and sensory neuropathy 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, hereditary motor and sensory neuropathy 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, hereditary motor and sensory neuropathy 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, hereditary motor and sensory neuropathy 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, hereditary motor and sensory neuropathy 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, hereditary motor and sensory neuropathy 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, hereditary motor and sensory neuropathy 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, hereditary motor and sensory neuropathy 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, hereditary motor and sensory neuropathy 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, hereditary motor and sensory neuropathy 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, hereditary motor and sensory neuropathy 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, hereditary motor and sensory neuropathy syndrome (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Hyperplasia of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy 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, hereditary motor and sensory neuropathy 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, hereditary motor and sensory neuropathy 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, hereditary motor and sensory neuropathy 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, hereditary motor and sensory neuropathy syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Hyperplasia of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy 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, hereditary motor and sensory neuropathy 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, hereditary motor and sensory neuropathy syndrome (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Hyperplasia of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy 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, hereditary motor and sensory neuropathy 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, hereditary motor and sensory neuropathy syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Hyperplasia of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy 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, hereditary motor and sensory neuropathy 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, hereditary motor and sensory neuropathy syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Hyperplasia of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy 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, hereditary motor and sensory neuropathy 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, hereditary motor and sensory neuropathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)
\Disease\Keratosis\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy 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, hereditary motor and sensory neuropathy 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, hereditary motor and sensory neuropathy 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, hereditary motor and sensory neuropathy syndrome (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy 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, hereditary motor and sensory neuropathy 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, hereditary motor and sensory neuropathy 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, hereditary motor and sensory neuropathy 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, hereditary motor and sensory neuropathy syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Hyperplasia of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy 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, hereditary motor and sensory neuropathy 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, hereditary motor and sensory neuropathy syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5048286011 Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5048287019 Palmoplantar keratoderma, Charcot-Marie-Tooth syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5048291012 Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

13603201000146118 syndroom van keratosis palmoplantaris en hereditaire motorische en sensorische neuropathie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13603211000146116 syndroom van palmoplantaire keratodermie en ziekte van Charcot-Marie-Tooth nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13603221000146114 syndroom van keratosis palmoplantaris en hereditaire motorische en sensorische neuropathie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

5048289016 A rare genetic autosomal dominant hereditary axonal motor and sensory neuropathy disorder with characteristics of childhood-onset palmoplantar keratoderma associated with motor and sensory polyneuropathy manifesting with late-onset, predominantly distal, lower limb muscle weakness and atrophy (later associating mild proximal weakness and upper limb involvement), moderate sensory impairment and normal or near normal nerve conduction velocities. Additional variable manifestations include impaired vibratory sensation, reduced tendon reflexes, pain, talipes equinovarus, pes cavus and nail dystrophy. 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
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)	Is a	Hereditary palmoplantar keratoderma	true	Inferred relationship	Some
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)	Is a	Hereditary motor and sensory neuropathy (disorder)	true	Inferred relationship	Some
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	3
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)	Finding site	Skin structure of sole of foot (body structure)	true	Inferred relationship	Some	1
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	1
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)	Finding site	Skin structure of palmar area of hand	true	Inferred relationship	Some	2
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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US English

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Id	Description	Lang	Type	Status	Case?	Module
5048286011	Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048287019	Palmoplantar keratoderma, Charcot-Marie-Tooth syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5048291012	Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13603201000146118	syndroom van keratosis palmoplantaris en hereditaire motorische en sensorische neuropathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13603211000146116	syndroom van palmoplantaire keratodermie en ziekte van Charcot-Marie-Tooth	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13603221000146114	syndroom van keratosis palmoplantaris en hereditaire motorische en sensorische neuropathie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
5048289016	A rare genetic autosomal dominant hereditary axonal motor and sensory neuropathy disorder with characteristics of childhood-onset palmoplantar keratoderma associated with motor and sensory polyneuropathy manifesting with late-onset, predominantly distal, lower limb muscle weakness and atrophy (later associating mild proximal weakness and upper limb involvement), moderate sensory impairment and normal or near normal nerve conduction velocities. Additional variable manifestations include impaired vibratory sensation, reduced tendon reflexes, pain, talipes equinovarus, pes cavus and nail dystrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core