1222646006: Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\...

\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)

\constatation à propos de la structure d'un membre\affection d'une extrémité\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)
\constatation à propos de la structure d'un membre\affection d'une extrémité\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)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (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)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of lower extremity (disorder)\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)
\constatation à propos de la structure d'un membre\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)
\constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)
\constatation à propos de la structure d'un membre\Finding of lower limb\Disorder of lower extremity (disorder)\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)
\constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (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)
\constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)
\constatation à propos de la structure d'un membre\résultat concernant le membre supérieur\Finding of hand region\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)

\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)
\constatation générale à propos des tissus mous\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)
\constatation générale à propos des tissus mous\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)
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\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\affection de la peau (trouble)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\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\affection de la peau (trouble)\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)

\Disease\Genetic disease\maladie héréditaire\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\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)
\Disease\affection d'un système corporel\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\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)
\Disease\affection d'un système corporel\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\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy (disorder)\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)
\Disease\kératose\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)
\Disease\affection d'une extrémité\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\affection d'une extrémité\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\affection d'une extrémité\Disorder of upper extremity (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\affection d'une extrémité\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)
\Disease\affection d'une extrémité\Disorder of lower extremity (disorder)\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\affection d'une extrémité\Disorder of lower extremity (disorder)\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\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\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\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\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

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)	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)	est un(e) (attribut)	Hereditary palmoplantar keratoderma	true	Inferred relationship	Some
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)	est un(e) (attribut)	Hereditary motor and sensory neuropathy (disorder)	true	Inferred relationship	Some
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)	localisation d'une constatation (attribut)	structure du système nerveux périphérique	true	Inferred relationship	Some	3
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)	localisation d'une constatation (attribut)	Skin structure of sole of foot	true	Inferred relationship	Some	1
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)	morphologie associée (attribut)	Hyperkeratosis	true	Inferred relationship	Some	1
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)	localisation d'une constatation (attribut)	peau de la région palmaire de la main (structure corporelle)	true	Inferred relationship	Some	2
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)	morphologie associée (attribut)	Hyperkeratosis	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

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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
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