Down syndrome - CISMeF

Preferred Label : Down syndrome;

CISMeF acronym : DCR; DSCR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Trisomy 21;

Included titles and symbols : Down syndrome chromosome region; Down syndrome critical region; DCR; DSCR;

Description : Down syndrome, the most frequent form of mental retardation caused by a microscopically demonstrable chromosomal aberration, is characterized by well-defined and distinctive phenotypic features and natural history. It is caused by triplicate state (trisomy) of all or a critical portion of chromosome 21.;

Inheritance : Isolated cases;

Molecular basis : Full trisomy 21, 94%; Mosaic trisomy 21, 2.4%; Translocation 21, 3.3%;

Neoplasia : Leukemia (both ALL and AML); Acute megakaryocytic leukemia;

Prefixed ID : #190685;

Details

Origin ID

190685;

UMLS CUI

C0013080;

Automatic exact mappings (from CISMeF team)
- Down syndrome chromosome region [HGNC gene]
- Trisomy 21 (morphologic abnormality) [SNOMED CT concept]
- dicarbonyl and L-xylulose reductase [ORDO Gene]
- down syndrome critical region [MeSH concept]
- down syndrome critical region [MeSH Supplementary Concept]
- down's syndrome [EMDN type]
- leukemia, megakaryoblastic, of down syndrome [MeSH Supplementary Concept]
- leukemia, megakaryoblastic, of down syndrome [MeSH concept]
- transient myeloproliferative disorder of down syndrome [MeSH concept]
- transient myeloproliferative disorder of down syndrome [MeSH Supplementary Concept]
DO Cross reference
- Down syndrome [DO Concept]
HPO term(s)
- Abnormal fetal nasal bone visualization [HPO term]
- Acute megakaryocytic leukemia [HPO term]
- Aganglionic megacolon [HPO term]
- Alzheimer disease [HPO term]
- Anal atresia [HPO term]
- Atlantoaxial instability [HPO term]
- Brachycephaly [HPO term]
- Broad palm [HPO term]
- Brushfield spots [HPO term]
- Complete atrioventricular canal defect [HPO term]
- Conductive hearing impairment [HPO term]
- Duodenal stenosis [HPO term]
- Duodenal stenosis/atresia [HPO term]
- Epicanthus [HPO term]
- Flat face [HPO term]
- Hypoplastic iliac wing [HPO term]
- Hypothyroidism [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Isolated cases [HPO term]
- Joint laxity [HPO term]
- Macroglossia [HPO term]
- Malar flattening [HPO term]
- Microtia [HPO term]
- Myeloproliferative disorder [HPO term]
- Prenatal double bubble sign [HPO term]
- Protruding tongue [HPO term]
- Shallow acetabular fossae [HPO term]
- Short broad hands [HPO term]
- Short middle phalanx of the 5th finger [HPO term]
- Short palm [HPO term]
- Short stature [HPO term]
- Single transverse palmar crease [HPO term]
- Sporadic [HPO term]
- Thickened nuchal skin fold [HPO term]
- Upslanted palpebral fissure [HPO term]
ORDO concept(s)
- Down syndrome [ORDO Disease]
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 [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]
- down syndrome [MeSH Descriptor]
- down syndrome [MeSH concept]
Validated automatic mappings to NTBT
- trisomy [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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