chromosome 4, partial trisomy distal 4q

Preferred Label : chromosome 4, partial trisomy distal 4q;

CISMeF synonym : chromosome 4, partial trisomy 4 (q25-qter); chromosome 4, partial trisomy 4 (q26 or q27-qter); chromosome 4, partial trisomy 4 (q31 or 32-qter);

Is substance : O;

Details

Origin ID

C537642;

UMLS CUI

C2931566;

CISMeF manual mappings
- Distal trisomy 4q [ORDO Disease]
- partial trisomy distal 4q [DO Concept]
Currated CISMeF NLP mapping
- 4q partial trisomy syndrome [SNOMED Notion]
- 4q partial trisomy syndrome (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- chromosomes, human, pair 4 [MeSH Descriptor]
- trisomy [MeSH Descriptor]
Record concept(s)
- Chromosome 4, partial trisomy distal 4q [MeSH concept]
- chromosome 4, partial trisomy 4 (q25-qter) [MeSH concept]
- chromosome 4, partial trisomy 4 (q26 or q27-qter) [MeSH concept]
- chromosome 4, partial trisomy 4 (q31 or 32-qter) [MeSH concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- Distal trisomy 4q [ORDO Disease]
- partial trisomy distal 4q [DO Concept]
Validated automatic mappings to BTNT
- Distal trisomy 4q (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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