Pettigrew Syndrome

Preferred Label : Pettigrew Syndrome;

NCIt synonyms : PGS;

NCIt definition : A rare, X-linked inherited syndrome characterized by mental retardation and additional features, which include choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain.;

Details

Origin ID

C124839;

UMLS CUI

C0796254;

Currated CISMeF NLP mapping
- Mental retardation, X-linked, syndromic 5 [MeSH concept]
- Pettigrew syndrome [OMIM Phenotype]
- X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) [SNOMED CT concept]
- X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome [ORDO Disease]
- mental retardation, X-linked, syndromic 5 [MeSH Supplementary Concept]
- syndromic X-linked intellectual disability 5 [DO Concept]
DO Cross reference
- syndromic X-linked intellectual disability 5 [DO Concept]
False automatic mappings
- Contact with health services for preimplantation genetic screening [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mental retardation, X-linked, syndromic 5 [MeSH concept]
- Pettigrew syndrome [OMIM Phenotype]
- X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) [SNOMED CT concept]
- X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome [ORDO Disease]
- mental retardation, X-linked, syndromic 5 [MeSH Supplementary Concept]
- syndromic X-linked intellectual disability 5 [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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