Complete trisomy 21

ICD-11 code : LD40.0;

Preferred Label : Complete trisomy 21;

ICD-11 definition : Trisomy 21 is a chromosomal abnormality, characterised by the presence of a third (partial or total) copy of chromosome 21, which clinical manifestations include variable intellectual deficiency, muscular hypotonia and joint laxity, often associated with facial dysmorphism and variable malformations (essentially heart and digestive) and a risk of complications (epilepsy, leukemia, auto-immune and endocrine pathologies, earlier aging and Alzheimer disease.;

ICD-11 synonym : Trisomy 21 NOS; Chromosome 21 trisomy; Trisomy 21 syndrome; abnormal autosomes 21; Down syndrome;

ICD-11 inclusion : Down syndrome;

Details

Origin ID

1624623908;

Automatic exact mappings (from CISMeF team)
- 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 syndrome (disorder) [SNOMED CT concept]
- DOWN'S SYNDROME [WHO-ART Included Term]
- Down Syndrome [NCIt concept]
- Down syndrome [PASCAL descriptor]
- Down syndrome [DO Concept]
- Down syndrome [ICD-10 category]
- Down syndrome [ORDO Disease]
- Down syndrome [OMIM Phenotype]
- Down syndrome, unspecified [ICD-10 Sub-category]
- Down's syndrome [LOINC component]
- Down's syndrome [ICD-9 code]
- Down's syndrome [MedDRA LLT]
- Down's syndrome [HPMULTI term]
- Syndrome Down's [MedDRA LLT]
- complete trisomy 21 syndrome [SNOMED Notion]
- down syndrome [MedlinePlus Topic]
- down syndrome [MeSH concept]
- down syndrome [MeSH Descriptor]
ICD-10 Mapping
- Down syndrome [ICD-10 category]

Keyword's position in hierarchy(ies) :

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