764946008: syndrome de déficit constitutionnel de la réparation des mésappariements (trouble)

• SNOMED CT Concept\constatation clinique\Disease\...
• \Genetic disease\maladie héréditaire\...
• \syndrome familial avec prédisposition aux cancers (trouble)\Constitutional mismatch repair deficiency syndrome (disorder)
• \Hereditary disorder by system\Hereditary disorder of immune system\Constitutional mismatch repair deficiency syndrome (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Constitutional mismatch repair deficiency syndrome (disorder)
• \trouble de la fonction immunitaire\Hereditary disorder of immune system\Constitutional mismatch repair deficiency syndrome (disorder)
• \trouble de la fonction immunitaire\troubles d'immunodéficience\Primary immune deficiency disorder (disorder)\Immunodeficiency associated with chromosomal abnormality\Constitutional mismatch repair deficiency syndrome (disorder)
• \trouble de la fonction immunitaire\troubles d'immunodéficience\Congenital immunodeficiency disease\Constitutional mismatch repair deficiency syndrome (disorder)
• \affection d'un système corporel\Disorder of immune structure (disorder)\Constitutional mismatch repair deficiency syndrome (disorder)
• \affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of immune system\Constitutional mismatch repair deficiency syndrome (disorder)
• \Congenital disease\Congenital immunodeficiency disease\Constitutional mismatch repair deficiency syndrome (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
3655711013	Constitutional mismatch repair deficiency syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3655712018	CMMR-D (constitutional mismatch repair deficiency) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3655713011	Constitutional mismatch repair deficiency syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
767381000241110	syndrome de déficit constitutionnel de la réparation des mésappariements (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
984101000172112	syndrome de déficit constitutionnel de la réparation des mésappariements	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3657274010	A rare inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (for example cafe au lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polyps) are frequently present before malignancy development.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3657275011	A rare inherited cancer-predisposing syndrome characterised by the development of a broad spectrum of malignancies during childhood, including mainly brain, haematological and gastrointestinal cancers, although embryonic and other tumours have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (for example cafe au lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polyps) are frequently present before malignancy development.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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