1172625004: DEAD-box helicase 41-related hematologic malignancy predisposition syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease\Hereditary disease\...
• \Hereditary cancer-predisposing syndrome\DDX41-related hematologic malignancy predisposition syndrome
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder\DDX41-related hematologic malignancy predisposition syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4634833013	DDX41-related hematologic malignancy predisposition syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4634834019	DEAD-box helicase 41-related hematologic malignancy predisposition syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4634835018	DDX41-related haematologic malignancy predisposition syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4634836017	DEAD-box helicase 41-related hematologic malignancy predisposition syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4634837014	DEAD-box helicase 41-related haematologic malignancy predisposition syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4634838016	A rare inherited cancer-predisposing syndrome characterised by adult onset of haematologic malignancies mainly affecting the myeloid lineage (such as myelodysplastic syndrome and/or acute myeloid leukaemia), less frequently lymphoid malignancies. Some patients have been reported to develop granulomatous or immune disorders (including sarcoidosis, systemic lupus erythematosus, asthma, eczema, or juvenile arthritis) before or in the absence of haematologic malignancies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4634839012	A rare inherited cancer-predisposing syndrome characterized by adult onset of hematologic malignancies mainly affecting the myeloid lineage (such as myelodysplastic syndrome and/or acute myeloid leukemia), less frequently lymphoid malignancies. Some patients have been reported to develop granulomatous or immune disorders (including sarcoidosis, systemic lupus erythematosus, asthma, eczema, or juvenile arthritis) before or in the absence of hematologic malignancies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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