chromosome 6pter-P24 deletion syndrome - CISMeF

" /> chromosome 6pter-P24 deletion syndrome - CISMeF

CISMeF

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Chromosome 6pter-P24 deletion syndromeMeSH Supplementary Concept

Preferred Label : chromosome 6pter-P24 deletion syndrome;

Details

Origin ID

C567239;

UMLS CUI

C2675486;

Currated CISMeF NLP mapping
- 6p24pter deletion [ICD-11 More detail]
- Chromosome 6pter-p24 deletion syndrome [OMIM Phenotype]
- Distal monosomy 6p [ORDO Disease]
- Distal monosomy 6p (disorder) [SNOMED CT concept]
- chromosome 6pter-p24 deletion syndrome [DO Concept]
MeSH term(s) associated for indexing
- chromosome deletion [MeSH Descriptor]
- chromosomes, human, pair 6 [MeSH Descriptor]
- eye abnormalities [MeSH Descriptor]
- hearing loss [MeSH Descriptor]
- heart defects, congenital [MeSH Descriptor]
- hypertelorism [MeSH Descriptor]
Record concept(s)
- chromosome 6pter-P24 deletion syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chromosome 6pter-p24 deletion syndrome [OMIM Phenotype]
- Distal monosomy 6p [ORDO Disease]
- chromosome 6pter-p24 deletion syndrome [DO Concept]

Keyword's position in hierarchy(ies) :

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05/05/2024

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