Miller-Dieker syndrome

Preferred Label : Miller-Dieker syndrome;

ICD-11 definition : Miller-Dieker Syndrome is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features.;

ICD-11 synonym : 17p13.3 microdeletion syndrome; Lissencephaly due to 17p13.3 deletion; Monosomy 17p13.3; Telomeric deletion 17p; 17p13.3 deletion;

Details

Origin ID

478783491;

UMLS CUI

C0265219;

Currated CISMeF NLP mapping
- Miller Dieker lissencephaly syndrome [Disease (Nov.)]
- Miller Dieker syndrome (disorder) [SNOMED CT concept]
- Miller-Dieker Syndrome [NCIt concept]
- Miller-Dieker lissencephaly syndrome [DO Concept]
- Miller-Dieker syndrome [ORDO Disease]
- Miller-Dieker syndrome [MedDRA LLT]
- Miller-dieker lissencephaly syndrome [OMIM Phenotype]
- lissencephaly syndrome, Miller-Dieker [MeSH concept]
- miller-dieker syndrome [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- classical lissencephalies and subcortical band heterotopias [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients