719827008: X-linked immunoneurologic disorder (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary disorder by system\Hereditary disorder of nervous system\X-linked immunoneurologic disorder (disorder)
• \Hereditary disorder by system\Hereditary disorder of immune system\X-linked immunoneurologic disorder (disorder)
• \Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)\X-linked immunoneurologic disorder (disorder)
• \Disorder of immune function (disorder)\Hereditary disorder of immune system\X-linked immunoneurologic disorder (disorder)
• \Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\X-linked immunoneurologic disorder (disorder)
• \Disorder of body system\Disorder of immune structure (disorder)\X-linked immunoneurologic disorder (disorder)
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked immunoneurologic disorder (disorder)
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\X-linked immunoneurologic disorder (disorder)
• \Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\X-linked immunoneurologic disorder (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
3318063019	X-linked immunoneurologic disorder (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318064013	X-linked immunoneurologic disorder	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318065014	Woods Black Norbury syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318066010	A syndrome with characteristics of immune deficiency and neurological disorders in females and neonatal death in males. The syndrome has been described in only one family with nine affected individuals (five males and four females) spanning two generations. Symptomatic females present slowly progressive proximal muscle weakness, leg hyperreflexia, pes cavus, increased muscle tone in the legs, poor bladder function, static reduced night vision and frequent sinopulmonary infections associated with IgG2 deficiency. Males present with low birth weight and severe hypotonia that leads to death in the neonatal period. The gene locus has been mapped to Xq26-qter.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
904161000172112	syndrome de Woods-Black-Norbury	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1010751000172114	syndrome immuno-neurologique lié à l'X	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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