down syndrome - CISMeF

Preferred Label : down syndrome;

UMLS semantic type : T019 - Congenital Abnormality;

Details

Origin ID

M0006778;

UMLS CUI

C0013080;

Automatic exact mappings (from CISMeF team)
- Trisomy 21 (morphologic abnormality) [SNOMED CT concept]
- congenital anomaly nos/multiple [ICPC-2 Rubric]
- down's syndrome [EMDN type]
Currated CISMeF NLP mapping
- Chromosome 21 trisomy [LOINC component]
- Complete Trisomy 21 Syndrome [NCIt concept]
- Complete trisomy 21 [ICD-11 Subcategory]
- Complete trisomy 21 syndrome (disorder) [SNOMED CT concept]
- DOWN'S SYNDROME [WHO-ART Included Term]
- Down Syndrome [NCIt concept]
- Down syndrome [PASCAL descriptor]
- Down syndrome [ICD-10 category]
- Down syndrome [DO Concept]
- Down syndrome [Disease (Nov.)]
- Down syndrome [ORDO Disease]
- Down syndrome [OMIM Phenotype]
- Down syndrome, unspecified [ICD-10 Sub-category]
- Down's syndrome [HPMULTI term]
- Down's syndrome [LOINC component]
- Down's syndrome [MedDRA LLT]
- Downs syndrome [ICD-10 category (who)]
- Downs syndrome, unspecified [ICD-10 Sub-category (who)]
- MONGOLISM [WHO-ART Preferred Term]
- Mongolism [MedDRA LLT]
- Syndrome Down's [MedDRA LLT]
- Trisomy 21 [TUV Concept]
- Trisomy 21 [MedDRA Preferred Term]
- Trisomy 21 [LOINC component]
- Trisomy 21 [NCIt concept]
- complete trisomy 21 syndrome [SNOMED Notion]
- down syndrome [MedlinePlus Topic]
Has phenotype(s) (HPO)
- Duodenal stenosis/atresia [HPO term]
- Isolated cases [HPO term]
- Short broad hands [HPO term]
MeSH narrower concept(s)
- down syndrome, partial trisomy 21 [MeSH concept]
- trisomy 21, meiotic nondisjunction [MeSH concept]
- trisomy 21, mitotic nondisjunction [MeSH concept]
Related record
- down syndrome [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chromosome 21 trisomy [LOINC component]
- Complete trisomy 21 syndrome (disorder) [SNOMED CT concept]
- DOWN'S SYNDROME [WHO-ART Included Term]
- Down Syndrome [NCIt concept]
- Down syndrome [OMIM Phenotype]
- Down syndrome [ORDO Disease]
- Down syndrome [ICD-10 category]
- Down syndrome [DO Concept]
- Down syndrome, unspecified [ICD-10 Sub-category]
- Down's syndrome [LOINC component]
- Down's syndrome [MedDRA LLT]
- Down's syndrome [ICD-9 code]
- Downs syndrome [ICD-10 category (who)]
- Downs syndrome, unspecified [ICD-10 Sub-category (who)]
- MONGOLISM [WHO-ART Preferred Term]
- Mongolism [MedDRA LLT]
- Syndrome Down's [MedDRA LLT]
- Trisomy 21 [MedDRA Preferred Term]
- Trisomy 21 [TUV Concept]
- Trisomy 21 (morphologic abnormality) [SNOMED CT concept]
- complete trisomy 21 syndrome [SNOMED Notion]
- down syndrome [MedlinePlus Topic]
Validated automatic mappings to NTBT
- trisomy [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

Main resources

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