733044009: Dermatoleukodystrophy (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Dermatoleukodystrophy

\Neurological lesion\Leucodystrophy\Dermatoleukodystrophy

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Dermatoleukodystrophy
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Dermatoleukodystrophy

\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\...

\Leucodystrophy\Dermatoleukodystrophy

\Hereditary degenerative disease of central nervous system\Dermatoleukodystrophy

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Dermatoleukodystrophy
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Dermatoleukodystrophy
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Dermatoleukodystrophy
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Dermatoleukodystrophy

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Dermatoleukodystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Dermatoleukodystrophy
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Dermatoleukodystrophy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Dermatoleukodystrophy
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Dermatoleukodystrophy
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Dermatoleukodystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Dermatoleukodystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Dermatoleukodystrophy
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Dermatoleukodystrophy
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Dermatoleukodystrophy
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Dermatoleukodystrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Leucodystrophy\Dermatoleukodystrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Dermatoleukodystrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Leucodystrophy\Dermatoleukodystrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Dermatoleukodystrophy
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Dermatoleukodystrophy
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Dermatoleukodystrophy
\Disease\Developmental disorder\Developmental hereditary disorder\Dermatoleukodystrophy
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Dermatoleukodystrophy

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

Descriptions:

Id Description Lang Type Status Case? Module

3498627013 Dermatoleukodystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498628015 Dermatoleukodystrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3499944019 This syndrome is characterized by the association of a progressive leukodystrophy marked by generalized mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3499945018 This syndrome is characterised by the association of a progressive leukodystrophy marked by generalised mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3956941000052114 dermatoleukodystrofi 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
Dermatoleukodystrophy	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Dermatoleukodystrophy	Is a	Leucodystrophy	true	Inferred relationship	Some
Dermatoleukodystrophy	Is a	Congenital anomaly of skin	true	Inferred relationship	Some
Dermatoleukodystrophy	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Dermatoleukodystrophy	Associated morphology	Dystrophy	false	Inferred relationship	Some	2
Dermatoleukodystrophy	Associated morphology	Myelin sheath alteration	true	Inferred relationship	Some	2
Dermatoleukodystrophy	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	2
Dermatoleukodystrophy	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	3
Dermatoleukodystrophy	Occurrence	Congenital	true	Inferred relationship	Some	3
Dermatoleukodystrophy	Finding site	Skin structure	true	Inferred relationship	Some	3
Dermatoleukodystrophy	Finding site	White matter structure of brain and spinal cord (body structure)	true	Inferred relationship	Some	1
Dermatoleukodystrophy	Finding site	Myelinated nerve fiber structure	true	Inferred relationship	Some	2
Dermatoleukodystrophy	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Dermatoleukodystrophy	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Dermatoleukodystrophy	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Dermatoleukodystrophy	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Dermatoleukodystrophy	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Dermatoleukodystrophy	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3498627013	Dermatoleukodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498628015	Dermatoleukodystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499944019	This syndrome is characterized by the association of a progressive leukodystrophy marked by generalized mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3499945018	This syndrome is characterised by the association of a progressive leukodystrophy marked by generalised mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3956941000052114	dermatoleukodystrofi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)