Schuurs-Hoeijmakers Syndrome

Preferred Label : Schuurs-Hoeijmakers Syndrome;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the PACS1 gene, encoding phosphofurin acidic cluster sorting protein 1. It is characterized by intellectual developmental delay, craniofacial abnormalities, as well as other variable congenital abnormalities.;

NCI Metathesaurus CUI : CL552246;

Details

Origin ID

C150555;

UMLS CUI

C3554343;

Automatic exact mappings (from CISMeF team)
- Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Schuurs-Hoeijmakers Syndrome [DO Concept]
- Schuurs-hoeijmakers syndrome [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome (disorder) [SNOMED CT concept]
- Schuurs-hoeijmakers syndrome [OMIM Phenotype]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- PACS1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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