733044009: dermatoleucodystrophie (trouble)

SNOMED CT Concept\constatation clinique\...

\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Dermatoleukodystrophy

\lésion neurologique\Leukodystrophy\Dermatoleukodystrophy

\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Dermatoleukodystrophy
\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)\Congenital anomaly of skin\Dermatoleukodystrophy

\constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\...

\Leukodystrophy\Dermatoleukodystrophy

\Hereditary degenerative disease of central nervous system\Dermatoleukodystrophy

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Dermatoleukodystrophy
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Dermatoleukodystrophy
\Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Dermatoleukodystrophy
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Dermatoleukodystrophy

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Dermatoleukodystrophy
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Dermatoleukodystrophy
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Dermatoleukodystrophy
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Dermatoleukodystrophy
\Disease\affection dégénérative\maladie dégénérative du système nerveux central\Leukodystrophy\Dermatoleukodystrophy
\Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Dermatoleukodystrophy
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Dermatoleukodystrophy
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Dermatoleukodystrophy
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Dermatoleukodystrophy
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Dermatoleukodystrophy
\Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Dermatoleukodystrophy
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Leukodystrophy\Dermatoleukodystrophy
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Dermatoleukodystrophy
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Leukodystrophy\Dermatoleukodystrophy
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Dermatoleukodystrophy
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Dermatoleukodystrophy
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Dermatoleukodystrophy
\Disease\trouble du développement\Developmental hereditary disorder\Dermatoleukodystrophy
\Disease\trouble du développement\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

762821000241116 dermatoleucodystrophie (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

952991000172119 dermatoleucodystrophie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dermatoleukodystrophy	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Dermatoleukodystrophy	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	3
Dermatoleukodystrophy	est un(e) (attribut)	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Dermatoleukodystrophy	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Dermatoleukodystrophy	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Dermatoleukodystrophy	est un(e) (attribut)	Leukodystrophy	true	Inferred relationship	Some
Dermatoleukodystrophy	est un(e) (attribut)	Congenital anomaly of skin	true	Inferred relationship	Some
Dermatoleukodystrophy	est un(e) (attribut)	Hereditary disorder of the integument	true	Inferred relationship	Some
Dermatoleukodystrophy	morphologie associée (attribut)	Dystrophy (morphologic abnormality)	false	Inferred relationship	Some	2
Dermatoleukodystrophy	morphologie associée (attribut)	Myelin sheath alteration	true	Inferred relationship	Some	2
Dermatoleukodystrophy	localisation d'une constatation (attribut)	système nerveux	false	Inferred relationship	Some	2
Dermatoleukodystrophy	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	3
Dermatoleukodystrophy	survenue (attribut)	congénital	true	Inferred relationship	Some	3
Dermatoleukodystrophy	localisation d'une constatation (attribut)	structure de la peau	true	Inferred relationship	Some	3
Dermatoleukodystrophy	localisation d'une constatation (attribut)	White matter structure of brain and spinal cord (body structure)	true	Inferred relationship	Some	1
Dermatoleukodystrophy	localisation d'une constatation (attribut)	Myelinated nerve fiber structure	true	Inferred relationship	Some	2
Dermatoleukodystrophy	morphologie associée (attribut)	Dystrophy (morphologic abnormality)	true	Inferred relationship	Some	1
Dermatoleukodystrophy	est un(e) (attribut)	Hereditary disorder of nervous system	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

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
762821000241116	dermatoleucodystrophie (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
952991000172119	dermatoleucodystrophie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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