719827008: syndrome immuno-neurologique lié à l'X (trouble)

• SNOMED CT Concept\constatation clinique\Disease\...
• \Genetic disease\maladie héréditaire\...
• \Hereditary disorder by system\Hereditary disorder of nervous system\syndrome immuno-neurologique lié à l'X
• \Hereditary disorder by system\Hereditary disorder of immune system\syndrome immuno-neurologique lié à l'X
• \Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)\syndrome immuno-neurologique lié à l'X
• \trouble de la fonction immunitaire\Hereditary disorder of immune system\syndrome immuno-neurologique lié à l'X
• \trouble de la fonction immunitaire\troubles d'immunodéficience\Primary immune deficiency disorder (disorder)\syndrome immuno-neurologique lié à l'X
• \affection d'un système corporel\Disorder of immune structure (disorder)\syndrome immuno-neurologique lié à l'X
• \affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\syndrome immuno-neurologique lié à l'X
• \affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of immune system\syndrome immuno-neurologique lié à l'X
• \affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\syndrome immuno-neurologique lié à l'X

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
1010751000172114	syndrome immuno-neurologique lié à l'X	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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
754961000241119	syndrome immuno-neurologique lié à l'X (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
904161000172112	syndrome de Woods-Black-Norbury	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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

Expanded Value Set

This concept is not in any reference sets

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