down syndrome - CISMeF

Preferred Label : down syndrome;

MeSH definition : A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213); A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213);

MeSH synonym : trisomy 21; downs syndrome; mongolism; down's syndrome; syndrome, down's; syndrome, down; 47,XX, 21; 47,XY, 21; trisomy G;

MeSH hyponym : trisomy 21, meiotic nondisjunction; trisomy 21, mitotic nondisjunction; down syndrome, partial trisomy 21; Partial Trisomy 21 Down Syndrome;

Wikipedia link : https://en.wikipedia.org/wiki/Down syndrome;

Details

Origin ID

D004314;

UMLS CUI

C0013080;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
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]
- Complete trisomy 21, meiotic non-disjunction [ICD-11 More detail]
- Crush syndrome (disorder) [SNOMED CT concept]
- Disease (disorder) [SNOMED CT concept]
- Down (qualifier value) [SNOMED CT concept]
- 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]
- Mongol (ethnic group) [SNOMED CT concept]
- Mongol Chinese [NCIt concept]
- Moyamoya disease (disorder) [SNOMED CT concept]
- Northern Frisian Language [NCIt concept]
- Olivopontocerebellar degeneration (disorder) [SNOMED CT concept]
- Oromandibular-limb hypogenesis spectrum (disorder) [SNOMED CT concept]
- Partial trisomy 21 in Down's syndrome (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]
- Trisomy 18 [MedDRA Preferred Term]
- Trisomy 21 (morphologic abnormality) [SNOMED CT concept]
- Trisomy 21, meiotic nondisjunction [ICD-10 Sub-category (who)]
- Trisomy 21, nonmosaicism (meiotic nondisjunction) [ICD-10 Sub-category]
- Trisomy 21- meiotic nondisjunction (disorder) [SNOMED CT concept]
- 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 [medical devices type]
- down's syndrome [EMDN type]
- four x syndrome [SNOMED Notion]
- jervis' syndrome [SNOMED Notion]
- meigs' syndrome [SNOMED Notion]
- sotos' syndrome [SNOMED Notion]
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 [ICD-9 code]
- 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]
- Mongolia (geographic location) [SNOMED CT concept]
- 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]
DO Cross reference
- Down syndrome [DO 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]
Indexing information
- DOP1B protein, human [MeSH Supplementary Concept]
- DSCAML1 protein, human [MeSH Supplementary Concept]
- DSCR1 protein, mouse [MeSH Supplementary Concept]
- DSCR4 lncRNA, human [MeSH Supplementary Concept]
- NCAM2 protein, human [MeSH Supplementary Concept]
- PKNOX1 protein, human [MeSH Supplementary Concept]
- Pknox1 protein, mouse [MeSH Supplementary Concept]
- TTC3 protein, human [MeSH Supplementary Concept]
- Ttc3 protein, mouse [MeSH Supplementary Concept]
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]
- congenital anomaly nos/multiple [ICPC-2 Rubric]
MedlinePlus topic(s)
- down syndrome [MedlinePlus Topic]
ORDO relation(s)
- Down syndrome [ORDO Disease]
Record concept(s)
- down syndrome [MeSH concept]
- down syndrome, partial trisomy 21 [MeSH concept]
- trisomy 21, meiotic nondisjunction [MeSH concept]
- trisomy 21, mitotic nondisjunction [MeSH concept]
Related MeSH Supplementary Concept(s)
- down syndrome critical region [MeSH Supplementary Concept]
- leukemia, megakaryoblastic, of down syndrome [MeSH Supplementary Concept]
- myeloproliferative syndrome, transient [MeSH Supplementary Concept]
- myeloproliferative syndrome, transient [MeSH Supplementary Concept]
- transient myeloproliferative disorder of down syndrome [MeSH Supplementary Concept]
See also
- intellectual disability [MeSH Descriptor]
See also (suggested by CISMeF)
- trisomy [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 [ORDO Disease]
- Down syndrome [OMIM Phenotype]
- 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.)]

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