Phelan-McDermid Syndrome

Preferred Label : Phelan-McDermid Syndrome;

NCIt synonyms : Chromosome 22q13.3 Deletion Syndrome; PHMDS;

NCIt definition : An autosomal dominant condition caused by mutation(s) and or deletion of the SHANK3 gene, encoding SH3 and multiple ankyrin repeat domains protein 3. It is characterized by variable features, which may include intellectual disability, autism spectrum disorder, developmental delay and mild dysmorphic features.;

Details

Origin ID

C157124;

UMLS CUI

C1853490;

Automatic exact mappings (from CISMeF team)
- Phelan-McDermid syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- 22q13 deletion [ICD-11 More detail]
- 22q13.3 deletion syndrome (disorder) [SNOMED CT concept]
- Monosomy 22q13.3 [ORDO Disease]
- Phelan-McDermid syndrome [DO Concept]
- Phelan-mcdermid syndrome [OMIM Phenotype]
- chromosome 22q13 deletion syndrome [Disease (Nov.)]
- telomeric 22q13 monosomy syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 22q13.3 deletion syndrome (disorder) [SNOMED CT concept]
- Monosomy 22q13.3 [ORDO Disease]
- Phelan-McDermid syndrome [MedDRA Preferred Term]
- Phelan-mcdermid syndrome [OMIM Phenotype]
- telomeric 22q13 monosomy syndrome [MeSH Supplementary Concept]
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 22 [NCIt concept]
disease_mapped_to_gene
- SHANK3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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