718847005: syndrome neurodégénératif lié à l'X type Hamel (trouble)

• SNOMED CT Concept\constatation clinique\Disease\...
• \Genetic disease\maladie héréditaire\...
• \Hereditary disorder by system\Hereditary disorder of nervous system\X-linked neurodegenerative syndrome Hamel type (disorder)
• \Developmental hereditary disorder\X-linked neurodegenerative syndrome Hamel type (disorder)
• \Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked neurodegenerative syndrome Hamel type (disorder)
• \affection dégénérative\X-linked neurodegenerative syndrome Hamel type (disorder)
• \affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked neurodegenerative syndrome Hamel type (disorder)
• \affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\X-linked neurodegenerative syndrome Hamel type (disorder)
• \trouble mental\troubles mentaux du développement\Intellectual disability\X-linked neurodegenerative syndrome Hamel type (disorder)
• \trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\X-linked neurodegenerative syndrome Hamel type (disorder)
• \trouble du développement\Developmental hereditary disorder\X-linked neurodegenerative syndrome Hamel type (disorder)

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3314120011	X-linked neurodegenerative syndrome Hamel type (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3314121010	X-linked neurodegenerative syndrome Hamel type	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
753191000241114	syndrome neurodégénératif lié à l'X type Hamel (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
947061000172111	syndrome neurodégénératif lié à l'X type Hamel	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3314122015	This syndrome is an X-linked neurodegenerative disorder with characteristics of intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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