771184001: Leukoencephalopathy, palmoplantar keratoderma syndrome (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\...

\Rough skin (finding)\Rough skin of hands\Leukoencephalopathy, palmoplantar keratoderma syndrome

\Disorder of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\Disorder of skin (disorder)\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\Disorder of skin (disorder)\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Leukoencephalopathy\Leukoencephalopathy, palmoplantar keratoderma syndrome
\Head finding (finding)\Finding of head region\Leukoencephalopathy\Leukoencephalopathy, palmoplantar keratoderma syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\Leukoencephalopathy, palmoplantar keratoderma syndrome

\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\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\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\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\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\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\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\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\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\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\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\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\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\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\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\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\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\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Rough skin of hands\Leukoencephalopathy, palmoplantar keratoderma syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome

\General finding of soft tissue\Skin finding\Rough skin (finding)\Rough skin of hands\Leukoencephalopathy, palmoplantar keratoderma syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\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\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\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\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\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\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\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\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\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\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Leukoencephalopathy\Leukoencephalopathy, palmoplantar keratoderma syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\Leukoencephalopathy, palmoplantar keratoderma syndrome

\Functional finding\Abnormal keratinization\...

\Rough skin (finding)\Rough skin of hands\Leukoencephalopathy, palmoplantar keratoderma syndrome

\Disorder of keratinisation\Inherited disorder of keratinisation\Leukoencephalopathy, palmoplantar keratoderma syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Leukoencephalopathy, palmoplantar keratoderma syndrome
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Leukoencephalopathy, palmoplantar keratoderma syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\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\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\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\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\Integumentary system finding\Skin finding\Rough skin (finding)\Rough skin of hands\Leukoencephalopathy, palmoplantar keratoderma syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin of lower limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin of upper limb (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\Integumentary system finding\Abnormal keratinization\Rough skin (finding)\Rough skin of hands\Leukoencephalopathy, palmoplantar keratoderma syndrome
\Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinisation\Leukoencephalopathy, palmoplantar keratoderma syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Leukoencephalopathy, palmoplantar keratoderma syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Leukoencephalopathy, palmoplantar keratoderma syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Leukoencephalopathy, palmoplantar keratoderma syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Leukoencephalopathy, palmoplantar keratoderma syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Leukoencephalopathy, palmoplantar keratoderma syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Leukoencephalopathy, palmoplantar keratoderma syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Leukoencephalopathy, palmoplantar keratoderma syndrome
\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\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\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\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\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\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Leukoencephalopathy, palmoplantar keratoderma syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\Leukoencephalopathy, palmoplantar keratoderma syndrome
\Disease\Keratosis\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\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\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\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\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\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\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\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\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Leukoencephalopathy\Leukoencephalopathy, palmoplantar keratoderma syndrome
\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\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\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\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Palmoplantar keratoderma\Hereditary palmoplantar keratoderma\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\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\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome
\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\Punctate palmoplantar keratoderma (disorder)\Leukoencephalopathy, palmoplantar keratoderma syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3704804017 Leukoencephalopathy, palmoplantar keratoderma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3704805016 Leukoencephalopathy, palmoplantar keratoderma syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3789564010 Leucoencephalopathy, palmoplantar keratoderma syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3704806015 A rare genetic epidermal disease with characteristics of early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3789563016 A rare genetic epidermal disease with characteristics of early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leucoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. 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
Leukoencephalopathy, palmoplantar keratoderma syndrome	Is a	Leukoencephalopathy	true	Inferred relationship	Some
Leukoencephalopathy, palmoplantar keratoderma syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Leukoencephalopathy, palmoplantar keratoderma syndrome	Is a	Punctate palmoplantar keratoderma (disorder)	true	Inferred relationship	Some
Leukoencephalopathy, palmoplantar keratoderma syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Leukoencephalopathy, palmoplantar keratoderma syndrome	Interprets	Keratinization	true	Inferred relationship	Some	1
Leukoencephalopathy, palmoplantar keratoderma syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	1
Leukoencephalopathy, palmoplantar keratoderma syndrome	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Leukoencephalopathy, palmoplantar keratoderma syndrome	Occurrence	Adulthood	false	Inferred relationship	Some	2
Leukoencephalopathy, palmoplantar keratoderma syndrome	Finding site	Cerebral white matter structure	true	Inferred relationship	Some	2
Leukoencephalopathy, palmoplantar keratoderma syndrome	Occurrence	Early childhood (qualifier value)	false	Inferred relationship	Some	3
Leukoencephalopathy, palmoplantar keratoderma syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	3
Leukoencephalopathy, palmoplantar keratoderma syndrome	Finding site	Skin structure	false	Inferred relationship	Some	3
Leukoencephalopathy, palmoplantar keratoderma syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Leukoencephalopathy, palmoplantar keratoderma syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	4
Leukoencephalopathy, palmoplantar keratoderma syndrome	Finding site	Skin structure of palmar area of hand	true	Inferred relationship	Some	4
Leukoencephalopathy, palmoplantar keratoderma syndrome	Is a	Inherited disorder of keratinisation	true	Inferred relationship	Some
Leukoencephalopathy, palmoplantar keratoderma syndrome	Finding site	Skin structure of sole of foot (body structure)	true	Inferred relationship	Some	3
Leukoencephalopathy, palmoplantar keratoderma syndrome	Is a	Keratosis	false	Inferred relationship	Some
Leukoencephalopathy, palmoplantar keratoderma syndrome	Is a	Rough skin (finding)	false	Inferred relationship	Some
Leukoencephalopathy, palmoplantar keratoderma syndrome	Is a	Rough skin of hands	true	Inferred relationship	Some

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
3704804017	Leukoencephalopathy, palmoplantar keratoderma syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3704805016	Leukoencephalopathy, palmoplantar keratoderma syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3789564010	Leucoencephalopathy, palmoplantar keratoderma syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3704806015	A rare genetic epidermal disease with characteristics of early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3789563016	A rare genetic epidermal disease with characteristics of early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leucoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core