718849008: X-linked neurodegenerative syndrome Bertini type (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding related to coordination / incoordination\Ataxia\Hereditary ataxia\X-linked neurodegenerative syndrome Bertini type
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\X-linked neurodegenerative syndrome Bertini type
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked neurodegenerative syndrome Bertini type
• \Disease\Degenerative disorder\X-linked neurodegenerative syndrome Bertini type
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\X-linked neurodegenerative syndrome Bertini type
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\X-linked neurodegenerative syndrome Bertini type
• \Disease\Congenital disease\X-linked neurodegenerative syndrome Bertini type

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3314126017	X-linked neurodegenerative syndrome Bertini type (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3314127014	X-linked neurodegenerative syndrome Bertini type	en	Synonym	Active	Case sensitive	SNOMED CT core
3314128016	This syndrome is characterised by generalised hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter.	en	Definition	Active	Case sensitive	SNOMED CT core
3314129012	This syndrome is characterized by generalized hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter.	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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