Trisomy 18 - CISMeF

Preferred Label : Trisomy 18;

NCIt related terms : Trisomy-18;

NCIt definition : A chromosomal abnormality consisting of the presence of a third copy of chromosome 18 in somatic cells.;

Alternative definition : ACC/AHA: A chromosomal abnormality consisting of the presence of part of all of a third copy of chromosome 18 in somatic cells.;

Détails

Origin ID

C36626;

UMLS CUI

C3537048;

Automatic exact mappings (from CISMeF team)
- Trisomy 18 [ACR pathology]
- Trisomy 18 [ACR pathology]
- Trisomy 18 [ACR pathology]
- Trisomy 18 (morphologic abnormality) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Complete trisomy 18 [ICD-11 Subcategory]
- Complete trisomy 18 syndrome (disorder) [SNOMED CT concept]
- Duplications of chromosome 18 [ICD-11 Subcategory]
- Edward's syndrome [MedDRA LLT]
- Edwards syndrome [PASCAL descriptor]
- Edwards syndrome [DO Concept]
- Edwards syndrome [Disease (Nov.)]
- Edwards' syndrome [MedDRA LLT]
- Edwards' syndrome [ICD-9 code]
- Trisomy 18 [MedDRA Preferred Term]
- Trisomy 18 [ORDO Disease]
- Trisomy 18, unspecified [ICD-10 Sub-category]
- complete trisomy 18 syndrome [SNOMED Notion]
- trisomy 18 [MeSH concept]
- trisomy 18 [Radlex concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- Fetal chromosome 18 trisomy [LOINC component]
- Trisomy 18 (morphologic abnormality) [SNOMED CT concept]
- Trisomy 18, unspecified [ICD-10 Sub-category]
concept_is_in_subset
- ACC/AHA Pediatric and Congenital Cardiology EHR Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
cytogenetic_abnormality_involves_chromosome
- Human Chromosome 18 [NCIt concept]
is_molecular_abnormality_of_disease
- Complete Trisomy 18 Syndrome [NCIt concept]
may_be_cytogenetic_abnormality_of_disease
- Ann Arbor Stage I Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue [NCIt concept]
- Ann Arbor Stage II Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue [NCIt concept]
- Ann Arbor Stage III Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue [NCIt concept]
- Ann Arbor Stage IV Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue [NCIt concept]
- Bladder Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]
- Borrelia Burgdoferi-Associated Primary Cutaneous Marginal Zone Lymphoproliferative Disorder [NCIt concept]
- Breast Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]
- Campylobacter Jejuni-Associated Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]
- Childhood Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue [NCIt concept]
- Chlamydia Psittaci-Associated Ocular Adnexal Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]
- Colon Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]
- Colorectal Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]
- Conjunctival Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]
- Dural Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue [NCIt concept]
- Endometrial Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]
- Esophageal Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]
- Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue [NCIt concept]
- Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue Involving the Digestive System [NCIt concept]
- Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue by Ann Arbor Stage [NCIt concept]
- Gastric Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]
- Head and Neck Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue [NCIt concept]
- Helicobacter Pylori-Associated Gastric Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]
- Kidney Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]
- Lacrimal Drainage System Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]
- Lacrimal Gland Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]
- Lacrimal System Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]
- Liver Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]
- Lung Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]
- Nasopharyngeal Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]
- Ocular Adnexal Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]
- Parotid Gland Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]
- Pleural Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]
- Posterior Fossa Ependymoma, Group B (PFB) [NCIt concept]
- Primary Cold Agglutinin Disease [NCIt concept]
- Primary Cutaneous Marginal Zone Lymphoproliferative Disorder [NCIt concept]
- Rectal Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]
- Recurrent Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue [NCIt concept]
- Refractory Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue [NCIt concept]
- Salivary Gland Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]
- Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]
- Sporadic Breast Carcinoma [NCIt concept]
- Thymus Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]
- Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma [NCIt concept]

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