Miller-Dieker Syndrome

Preferred Label : Miller-Dieker Syndrome;

NCIt synonyms : Miller-Dieker Lissencephaly Syndrome;

NCIt definition : A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip.;

Details

Origin ID

C124852;

UMLS CUI

C0265219;

Currated CISMeF NLP mapping
- Miller Dieker lissencephaly syndrome [Disease (Nov.)]
- Miller Dieker syndrome (disorder) [SNOMED CT concept]
- Miller-Dieker lissencephaly syndrome [DO Concept]
- Miller-Dieker syndrome [ORDO Disease]
- Miller-Dieker syndrome [ICD-11 More detail]
- Miller-Dieker syndrome [MedDRA LLT]
- Miller-dieker lissencephaly syndrome [OMIM Phenotype]
- lissencephaly syndrome, Miller-Dieker [MeSH concept]
- miller-dieker syndrome [SNOMED Notion]
DO Cross reference
- Miller-Dieker lissencephaly syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- MDS [MedDRA LLT]
- Miller Dieker lissencephaly syndrome [Disease (Nov.)]
- Miller Dieker syndrome (disorder) [SNOMED CT concept]
- Miller-Dieker lissencephaly syndrome [DO Concept]
- Miller-Dieker syndrome [ORDO Disease]
- Miller-Dieker syndrome [ICD-11 More detail]
- Miller-Dieker syndrome [MedDRA LLT]
- Miller-dieker lissencephaly syndrome [OMIM Phenotype]
- lissencephaly syndrome, Miller-Dieker [MeSH concept]
- miller-dieker syndrome [SNOMED Notion]
Validated automatic mappings to NTBT
- classical lissencephalies and subcortical band heterotopias [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 17 [NCIt concept]

Keyword's position in hierarchy(ies) :

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