chromosome 1q21.1 deletion syndrome, 1.35-Mb

Preferred Label : chromosome 1q21.1 deletion syndrome, 1.35-Mb;

MeSH synonym : chromosome 1q21.1 deletion syndrome; 1q21.1 deletion; 1q21.1 microdeletion; 1q21.1 contiguous gene deletion;

Détails

Origin ID

C567291;

UMLS CUI

C2675897;

Automatic exact mappings (from CISMeF team)
- thrombocytopenia-absent radius syndrome [DO Concept]
Currated CISMeF NLP mapping
- 1q21.1 deletion [ICD-11 More detail]
- 1q21.1 deletion syndrome [Disease (Nov.)]
- 1q21.1 microdeletion syndrome [ORDO Disease]
- 1q21.1 microdeletion syndrome (disorder) [SNOMED CT concept]
- Chromosome 1q21.1 deletion syndrome, 1.35-mb [OMIM Phenotype]
- chromosome 1q21.1 deletion syndrome [DO Concept]
MeSH term(s) associated for indexing
- Megalencephaly [MeSH Descriptor]
- abnormalities, multiple [MeSH Descriptor]
- chromosome deletion [MeSH Descriptor]
- chromosomes, human, pair 1 [MeSH Descriptor]
Record concept(s)
- chromosome 1q21.1 deletion syndrome, 1.35-Mb [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- 1q21.1 deletion [ICD-11 More detail]
- 1q21.1 deletion syndrome [Disease (Nov.)]
- 1q21.1 microdeletion syndrome [ORDO Disease]
- 1q21.1 microdeletion syndrome (disorder) [SNOMED CT concept]
- Chromosome 1q21.1 deletion syndrome, 1.35-mb [OMIM Phenotype]
- chromosome 1q21.1 deletion syndrome [DO Concept]

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