Complete trisomy 13

ICD-11 code : LD40.1;

Preferred Label : Complete trisomy 13;

ICD-11 definition : Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.;

ICD-11 synonym : complete trisomy 13 syndrome; Patau syndrome; d 1 trisomy syndrome; trisomy 13; d1 trisomy syndrome; d1 trisomy; chromosome 13 trisomy; trisomy 13 syndrome; patau; d sub 1 /sub trisomy syndrome;

ICD-11 inclusion : Patau syndrome;

Details

Origin ID

1435958084;

Automatic exact mappings (from CISMeF team)
- (d) (tumor staging) [SNOMED CT concept]
- 2'-deoxythymidylyl-(3'-5')-2'-deoxyadenosine [MeSH Supplementary Concept]
- Complete Trisomy 13 Syndrome [MeSH concept]
- D Ag [LOINC component]
- D NOS Ag [LOINC component]
- Daily [NCIt concept]
- Day [NCIt concept]
- Day Imputed [NCIt concept]
- Deci [NCIt concept]
- Lower case Roman letter d (qualifier value) [SNOMED CT concept]
- Trisomy 13 (morphologic abnormality) [SNOMED CT concept]
- Trisomy 13 Syndrome [MeSH concept]
- Unified Atomic Mass Unit [NCIt concept]
- Upper case Roman letter D (qualifier value) [SNOMED CT concept]
- d(A-T) [MeSH concept]
- d(AT) [MeSH concept]
Currated CISMeF NLP mapping
- Complete Trisomy 13 Syndrome [NCIt concept]
- Complete trisomy 13 syndrome (disorder) [SNOMED CT concept]
- Patau syndrome [PASCAL descriptor]
- Patau syndrome [DO Concept]
- Patau's syndrome [MedDRA LLT]
- Patau's syndrome [ICD-9 code]
- Trisomy 13 [NCIt concept]
- Trisomy 13 [ORDO Disease]
- Trisomy 13 [MedDRA Preferred Term]
- Trisomy 13 Syndrome [MeSH Descriptor]
- chromosome 13 duplication [MeSH concept]
- complete trisomy 13 syndrome [SNOMED Notion]
ICD-10 Mapping
- Trisomy 18 and Trisomy 13 [ICD-10 category]

Keyword's position in hierarchy(ies) :

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