say syndrome - CISMeF

Preferred Label : say syndrome;

MeSH synonym : say barber hobbs syndrome; cleft palate large ears small head; cleft palate, microcephaly, large ears, and short stature;

Details

Origin ID

C536621;

UMLS CUI

C1867023;

Automatic exact mappings (from CISMeF team)
- Borries' syndrome (disorder) [SNOMED CT concept]
- Bruns' syndrome (disorder) [SNOMED CT concept]
- Capgras' syndrome [MedDRA LLT]
- Capgras' syndrome (finding) [SNOMED CT concept]
- Carotid artery insufficiency syndrome (disorder) [SNOMED CT concept]
- Chromosome 21 trisomy [LOINC component]
- Crush syndrome (disorder) [SNOMED CT concept]
- DOWN'S SYNDROME [WHO-ART Included Term]
- Disease (disorder) [SNOMED CT concept]
- Down syndrome [PASCAL descriptor]
- Edwards' syndrome [MedDRA LLT]
- Eosinophilic cellulitis [MedDRA Preferred Term]
- Eosinophilic cellulitis (disorder) [SNOMED CT concept]
- Exudative retinopathy (disorder) [SNOMED CT concept]
- Fuchs' syndrome [MedDRA Preferred Term]
- H syndrome [PASCAL descriptor]
- Jervis' syndrome (disorder) [SNOMED CT concept]
- Meigs Syndrome [NCIt concept]
- Meigs' syndrome [MedDRA Preferred Term]
- Meigs' syndrome (disorder) [SNOMED CT concept]
- Menkes' syndrome [MedDRA Preferred Term]
- Milles' syndrome [MedDRA LLT]
- Moebius II syndrome [MedDRA Preferred Term]
- Moyamoya disease (disorder) [SNOMED CT concept]
- Olivopontocerebellar degeneration (disorder) [SNOMED CT concept]
- Oromandibular-limb hypogenesis spectrum (disorder) [SNOMED CT concept]
- Peripartum cardiomyopathy [ORDO Disease]
- Polypoid sinus degeneration (disorder) [SNOMED CT concept]
- Sotos' syndrome [MedDRA Preferred Term]
- Sotos' syndrome (disorder) [SNOMED CT concept]
- Spens' syndrome [MedDRA LLT]
- Sturge-Weber syndrome [MedDRA Preferred Term]
- Syndrome [NCIt concept]
- Syndrome Down's [MedDRA LLT]
- Trisomy 18 [MedDRA Preferred Term]
- WHIM syndrome [PASCAL descriptor]
- Wells syndrome [PASCAL descriptor]
- X Syndrome [PASCAL descriptor]
- Young's syndrome [MedDRA Preferred Term]
- borries' syndrome [SNOMED Notion]
- bruns' syndrome [SNOMED Notion]
- capgras' syndrome [SNOMED Notion]
- down syndrome [MedlinePlus Topic]
- four x syndrome [SNOMED Notion]
- jervis' syndrome [SNOMED Notion]
- meigs' syndrome [SNOMED Notion]
- sotos' syndrome [SNOMED Notion]
Currated CISMeF NLP mapping
- Cleft palate, large ears, small head syndrome (disorder) [SNOMED CT concept]
- Cleft palate-large ears-small head syndrome [ORDO Disease]
- Say syndrome [OMIM Phenotype]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- cleft palate [MeSH Descriptor]
- ear, external [MeSH Descriptor]
- growth disorders [MeSH Descriptor]
- microcephaly [MeSH Descriptor]
Record concept(s)
- Say syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cleft palate, large ears, small head syndrome (disorder) [SNOMED CT concept]
- Cleft palate-large ears-small head syndrome [ORDO Disease]
- Say syndrome [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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