Monosomy 7 Myelodysplasia and Leukemia Syndrome 1

Preferred Label : Monosomy 7 Myelodysplasia and Leukemia Syndrome 1;

NCIt synonyms : Monosomy 7 of Bone Marrow; M7MLS1;

NCIt definition : An inherited condition caused by autosomal dominant mutation(s) in the SAMD9L gene, encoding sterile alpha motif domain-containing protein 9-like. The condition is characterized by an increased risk of developing myelodysplastic syndrome and acute myelogenous leukemia.;

Details

Origin ID

C176908;

UMLS CUI

C1854978;

Currated CISMeF NLP mapping
- Monosomy 7 myelodysplasia and leukemia syndrome 1 [OMIM Phenotype]
- monosomy 7 of bone marrow [MeSH Supplementary Concept]
- monosomy 7 of bone marrow [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Monosomy 7 myelodysplasia and leukemia syndrome 1 [OMIM Phenotype]
- monosomy 7 of bone marrow [MeSH Supplementary Concept]
- monosomy 7 of bone marrow [MeSH concept]
Validated automatic mappings to NTBT
- Monosomy 7 myelodysplasia and leukemia syndrome [OMIM phenotypic series]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_mapped_to_gene
- SAMD9L Gene [NCIt concept]
disease_may_have_cytogenetic_abnormality
- Monosomy 7 [NCIt concept]
related_to_genetic_biomarker
- SAMD9L Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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