Snijders Blok-Campeau syndrome

Preferred Label : Snijders Blok-Campeau syndrome;

MeSH synonym : SNIBCPS; Intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies; IDDMSF;

Details

Origin ID

C000729467;

UMLS CUI

C4748701;

Currated CISMeF NLP mapping
- CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome [ORDO Disease]
- Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome (disorder) [SNOMED CT concept]
- Snijders blok-campeau syndrome [OMIM Phenotype]
MeSH term(s) associated for indexing
- developmental disabilities [MeSH Descriptor]
- facies [MeSH Descriptor]
- hypertelorism [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
Record concept(s)
- Snijders Blok-Campeau syndrome [MeSH concept]
See also inter- (CISMeF)
- CHD3 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome (disorder) [SNOMED CT concept]
- Snijders blok-campeau syndrome [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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