Jacobsen Syndrome

Preferred Label : Jacobsen Syndrome;

NCIt synonyms : 11q Terminal Deletion Disorder;

NCIt definition : A very rare genetic syndrome caused by deletion of the terminal band of chromosome 11. It is characterized by the presence of growth and psychomotor retardation, broad nasal bridge, low set ears, strabismus, trigonocephaly, and thrombocytopenia.;

Details

Origin ID

C75457;

UMLS CUI

C0795841;

Currated CISMeF NLP mapping
- Distal partial deletion of long arm of chromosome 11 (disorder) [SNOMED CT concept]
- Jacobsen syndrome [PASCAL descriptor]
- Jacobsen syndrome [Disease (Nov.)]
- Jacobsen syndrome [ICD-11 More detail]
- Jacobsen syndrome [OMIM Phenotype]
- Jacobsen syndrome [ORDO Disease]
- chromosome 11q partial deletion [MeSH Supplementary Concept]
- jacobsen distal 11q deletion syndrome [MeSH Descriptor]
- jacobsen distal 11q deletion syndrome [MeSH concept]
See also inter- (CISMeF)
- 11q partial monosomy syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 11q partial monosomy syndrome [SNOMED Notion]
- 11q partial monosomy syndrome (disorder) [SNOMED CT concept]
- Distal partial deletion of long arm of chromosome 11 (disorder) [SNOMED CT concept]
- Jacobsen syndrome [ORDO Disease]
- Jacobsen syndrome [OMIM Phenotype]
- Jacobsen syndrome [Disease (Nov.)]
- Jacobsen syndrome [MedDRA Preferred Term]
- jacobsen distal 11q deletion syndrome [MeSH concept]
- jacobsen distal 11q deletion syndrome [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 11 [NCIt concept]

Keyword's position in hierarchy(ies) :

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