733044009: Dermatoleukodystrophy (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Dermatoleukodystrophy
• \Neurological lesion\Leucodystrophy\Dermatoleukodystrophy
• \General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Dermatoleukodystrophy
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Dermatoleukodystrophy
• \Central nervous system finding\Disorder of the central nervous system\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 of skin\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\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 of skin\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\Neurological disorder\Neuropathy\Leucodystrophy\Dermatoleukodystrophy
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Dermatoleukodystrophy
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Leucodystrophy\Dermatoleukodystrophy
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Dermatoleukodystrophy
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Dermatoleukodystrophy
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Dermatoleukodystrophy
• \Disease\Developmental disorder\Developmental hereditary disorder\Dermatoleukodystrophy
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Dermatoleukodystrophy

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3498627013	Dermatoleukodystrophy	en	Synonym	Active	Case insensitive	SNOMED CT core
3498628015	Dermatoleukodystrophy (disorder)	en	Fully specified name	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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