chromosome 1q43-Q44 deletion syndrome

Preferred Label : chromosome 1q43-Q44 deletion syndrome;

MeSH synonym : chromosome 1qter deletion syndrome;

Origin ID

C567346;

UMLS CUI

C2676727;

Currated CISMeF NLP mapping
- autosomal dominant non-syndromic intellectual disability 22 [DO Concept]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- chromosome deletion [MeSH Descriptor]
- chromosomes, human, pair 1 [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
Record concept(s)
- chromosome 1q43-Q44 deletion syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Distal monosomy 1q [ORDO Disease]
- Intellectual developmental disorder, autosomal dominant 22 [OMIM Phenotype]
Validated automatic mappings to NTBT
- Intellectual developmental disorder, autosomal dominant 22 [OMIM Phenotype]