complete trisomy 21 syndrome

Preferred Label : complete trisomy 21 syndrome;

Details

Origin ID

D4-02214;

UMLS CUI

C0013080;

Automatic exact mappings (from CISMeF team)
- Asian People [MeSH Descriptor]
- congenital anomaly nos/multiple [ICPC-2 Rubric]
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 [Disease (Nov.)]
- Down syndrome [DO Concept]
- Down syndrome [OMIM Phenotype]
- Down syndrome [ORDO Disease]
- Down syndrome, unspecified [ICD-10 Sub-category]
- Down's syndrome [LOINC component]
- Down's syndrome [MedDRA LLT]
- 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 [NCIt concept]
- Trisomy 21 [MedDRA Preferred Term]
- Trisomy 21 [TUV Concept]
- down syndrome [MeSH Descriptor]
- down syndrome [MeSH concept]
- down syndrome [MedlinePlus Topic]
- mongolia [MeSH concept]
- mongolia [MeSH Descriptor]
False automatic mappings
- Mongolia [NCIt concept]
ICD-10 exact mapping(s)
- Downs syndrome, unspecified [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Chromosomal anomaly with cataract [ORDO Disease]
- Chromosomal anomaly with epilepsy as a major feature [ORDO Disease]
- Male infertility with impaired virilization due to a testicular disorder associated with a neurologic disease [ORDO Disease]
- Neurodegenerative disease with dementia [ORDO Disease]
- Secondary ectropion [ORDO Disease]
- Sucking/swallowing disorder associated to a chromosomal anomaly [ORDO Disease]
- Syndrome or malformation associated with head and neck malformations [ORDO Disease]
- Syndromic anorectal malformation [ORDO Disease]
- Syndromic disorder with strabismus [ORDO Disease]
- Syndromic epicanthus [ORDO Disease]
- Syndromic intestinal malformation [ORDO Disease]
- Syndromic keratoconus [ORDO Disease]
- Syndromic outer canthal malposition [ORDO Disease]
- Syndromic renal or urinary tract malformation [ORDO Disease]
- Tauopathy with a major tau triplet at 60, 64 and 69 kDa [ORDO Disease]
- Total autosomal trisomy [ORDO Disease]
Metaterm(s)
- pediatrics [CISMeF Metaterm]
SNOMED CT concept
- Complete trisomy 21 syndrome (disorder) [SNOMED CT concept]
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]
- down syndrome [MeSH Descriptor]
- down syndrome [MeSH concept]
- down syndrome [MedlinePlus Topic]

Keyword's position in hierarchy(ies) :

Main resources

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