Chromosome 21 trisomy

Preferred Label : Chromosome 21 trisomy;

LOINC status : ACTIVE;

Synonyme UMLS : Down's syndrome; Down's syndrome, unspecified; Mongolism; Trisomy 21; Down syndrome; Complete trisomy 21 syndrome; T21 - Trisomy 21; Mongol; Downs syndrome; syndrome down's;

UMLS MTHU# : MTHU010201;

Details

Origin ID

LP19800-9;

UMLS CUI

C3537167;

Automatic exact mappings (from CISMeF team)
- Asian People [MeSH Descriptor]
- Mongol (ethnic group) [SNOMED CT concept]
- Mongol Chinese [NCIt concept]
- Northern Frisian Language [NCIt concept]
- Trisomy 21 (morphologic abnormality) [SNOMED CT concept]
- congenital anomaly nos/multiple [ICPC-2 Rubric]
- down syndrome [medical devices type]
- down's syndrome [EMDN type]
- say syndrome [MeSH Supplementary Concept]
- syndrome [MeSH Descriptor]
- syndrome [MeSH concept]
- wells syndrome [MeSH Supplementary Concept]
- young syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- 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 [ICD-10 category]
- Down syndrome [DO Concept]
- Down syndrome [Disease (Nov.)]
- Down syndrome [PASCAL descriptor]
- Down syndrome [ORDO Disease]
- Down syndrome [OMIM Phenotype]
- Down syndrome, unspecified [ICD-10 Sub-category]
- Down's syndrome [MedDRA LLT]
- Down's syndrome [ICD-9 code]
- Down's syndrome [HPMULTI term]
- 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 [NCIt concept]
- complete trisomy 21 syndrome [SNOMED Notion]
- down syndrome [MeSH Descriptor]
- down syndrome [MeSH concept]
- down syndrome [MedlinePlus Topic]
- mongolia [MeSH Descriptor]
- mongolia [MeSH concept]
False automatic mappings
- Mongolia [NCIt concept]
Has phenotype(s) (HPO)
- Duodenal stenosis/atresia [HPO term]
- Isolated cases [HPO term]
- Short broad hands [HPO term]
LOINC code(s)
- Chromosome 21 trisomy:Arb:Pt:Bld/Tiss:Ord:Cytogenetics [LOINC code]
- Chromosome 21 trisomy:Prctl:Pt:Bld/Tiss:SemiQn:Cytogenetics [LOINC code]
- Fetal chromosome 21 trisomy:Imp:Pt:Plas.cfDNA:Ord:Dosage of chromosome specific cf DNA [LOINC code]
- Fetal chromosome 21 trisomy:PrThr:Pt:Plas.cfDNA:Ord:Dosage of chromosome specific cf DNA [LOINC code]
- Fetal chromosome 21 trisomy:PrThr:Pt:Plas.cfDNA:Ord:Sequencing [LOINC code]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- 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 [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 [NCIt concept]
- Trisomy 21 (morphologic abnormality) [SNOMED CT concept]
- complete trisomy 21 syndrome [SNOMED Notion]
- down syndrome [MeSH Descriptor]
- down syndrome [MeSH concept]
- down syndrome [MedlinePlus Topic]
Validated automatic mappings to NTBT
- trisomy [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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