718847005: X-linked neurodegenerative syndrome Hamel type (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\X-linked neurodegenerative syndrome Hamel type
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\X-linked neurodegenerative syndrome Hamel type
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\X-linked neurodegenerative syndrome Hamel type
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked neurodegenerative syndrome Hamel type
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked neurodegenerative syndrome Hamel type
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked neurodegenerative syndrome Hamel type
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked neurodegenerative syndrome Hamel type
• \Disease\Degenerative disorder\X-linked neurodegenerative syndrome Hamel type
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked neurodegenerative syndrome Hamel type
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\X-linked neurodegenerative syndrome Hamel type
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked neurodegenerative syndrome Hamel type
• \Disease\Developmental disorder\Developmental hereditary disorder\X-linked neurodegenerative syndrome Hamel type

Status: current, Primitive. 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	Case sensitive	SNOMED CT core
3314121010	X-linked neurodegenerative syndrome Hamel type	en	Synonym	Active	Case sensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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