764946008: Constitutional mismatch repair deficiency syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary neoplastic syndrome\Constitutional mismatch repair deficiency syndrome
• \Hereditary disorder by system\Hereditary disorder of immune system\Constitutional mismatch repair deficiency syndrome
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Constitutional mismatch repair deficiency syndrome
• \Disorder of immune function\Hereditary disorder of immune system\Constitutional mismatch repair deficiency syndrome
• \Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Immunodeficiency associated with chromosomal abnormality\Constitutional mismatch repair deficiency syndrome
• \Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Constitutional mismatch repair deficiency syndrome
• \Disorder of body system\Disorder of immune structure\Constitutional mismatch repair deficiency syndrome
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Constitutional mismatch repair deficiency syndrome
• \Congenital disease\Congenital immunodeficiency disease\Constitutional mismatch repair deficiency syndrome

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3655712018	CMMR-D (constitutional mismatch repair deficiency) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3655713011	Constitutional mismatch repair deficiency syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
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	Case sensitive	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	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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