766705006: Immunodeficiency due to ficolin 3 deficiency (disorder)

• SNOMED CT Concept\constatation clinique\Disease\...
• \trouble de la fonction immunitaire\troubles d'immunodéficience\...
• \Primary immune deficiency disorder (disorder)\Immunodeficiency associated with chromosomal abnormality\Immunodeficiency due to ficolin 3 deficiency (disorder)
• \Congenital immunodeficiency disease\Immunodeficiency due to ficolin 3 deficiency (disorder)
• \affection d'un système corporel\Disorder of immune structure (disorder)\Immunodeficiency due to ficolin 3 deficiency (disorder)
• \Congenital disease\Congenital immunodeficiency disease\Immunodeficiency due to ficolin 3 deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3664253016	Immunodeficiency due to ficolin-3 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3664255011	Immunodeficiency due to ficolin 3 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3664257015	Immunodeficiency due to ficolin 3 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3664254010	A rare genetic immunodeficiency due to a complement cascade protein anomaly characterised by low or undetectable serum ficolin 3 levels, susceptibility to infections and possibly autoimmunity. The presentation is variable, from perinatal necrotising enterocolitis and recurrent skin infections with Staphylococcus aureus to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients clinical consequences of ficolin 3 deficiency were not clear. There is evidence that ficolin 3 deficiency is caused by homozygous mutation in the FCN3 gene on chromosome 1p36.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3664256012	A rare genetic immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin 3 levels, susceptibility to infections and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with Staphylococcus aureus to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients clinical consequences of ficolin 3 deficiency were not clear. There is evidence that ficolin 3 deficiency is caused by homozygous mutation in the FCN3 gene on chromosome 1p36.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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