415285009: Myelodysplastic syndrome with multilineage dysplasia (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2534454017 Refractory cytopenia with multilineage dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2534455016 Refractory cytopaenia with multilineage dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4953726015 Myelodysplastic syndrome with multilineage dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4953727012 Myelodysplastic syndrome with multilineage dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2561251000005110 Refraktær cytopeni med multilineær dysplasi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Refraktær cytopeni med multilineær dysplasi	Is a	Myelodysplastic syndrome (clinical)	false	Inferred relationship	Some
Refraktær cytopeni med multilineær dysplasi	Is a	Primary malignant neoplasm of bone marrow	false	Inferred relationship	Some
Refraktær cytopeni med multilineær dysplasi	Finding site	Bone marrow structure (body structure)	false	Inferred relationship	Some	1
Refraktær cytopeni med multilineær dysplasi	Associated morphology	Refraktær cytopeni med multilinjedysplasi	false	Inferred relationship	Some	1
Refraktær cytopeni med multilineær dysplasi	Associated morphology	Refraktær cytopeni med multilinjedysplasi	false	Inferred relationship	Some	1
Refraktær cytopeni med multilineær dysplasi	Finding site	Bone marrow structure (body structure)	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare multiple congenital anomalies/dysmorphic syndrome characterized by early-onset progressive bone marrow failure with anemia, leukopenia, mild thrombopenia, and myelodysplastic features, as well as non-hematologic manifestations, such as developmental delay, cataracts, facial dysmorphism, short stature, and skeletal anomalies. Immunodeficiency primarily affects B-cells and may lead to increased susceptibility to infections. Additional reported features include dry skin and eczema, cardiac anomalies, hearing loss, and reduction of cerebral volume on brain imaging.	Is a	False	Refraktær cytopeni med multilineær dysplasi	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)