Velocardiofacial syndrome

Preferred Label : Velocardiofacial syndrome;

Symbol : VCFS;

CISMeF acronym : VCFS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chromosome 22q11.2 deletion syndrome; Shprintzen vcf syndrome; Vcf syndrome;

Inheritance : Autosomal dominant;

Molecular basis : A contiguous gene syndrome caused by deletion (1.5Mb - 3.0Mb) of 22q11.2;

Laboratory abnormalities : Monosomy for 22q11;

Prefixed ID : #192430;

Détails

Origin ID

192430;

UMLS CUI

C0220704;

Automatic exact mappings (from CISMeF team)
- TBX1 wt Allele [NCIt concept]
- Velo-cardio-facial syndrome [ICD-9 code]
Currated CISMeF NLP mapping
- 22q11.2 Deletion Syndrome [NCIt concept]
- 22q11.2 deletion syndrome [MedDRA Preferred Term]
- 22q11.2 deletion syndrome (disorder) [SNOMED CT concept]
- Velo-cardio-facial syndrome [MedDRA Preferred Term]
- Velocardiofacial syndrome [PASCAL descriptor]
- velocardiofacial syndrome [DO Concept]
- velocardiofacial syndrome [MeSH concept]
DO Cross reference
- velocardiofacial syndrome [DO Concept]
False automatic mappings
- VCF Regimen [NCIt concept]
Genes related to phenotype
- T-box transcription factor 1 [OMIM gene]
HPO term(s)
- Abnormality of the ear [HPO term]
- Abnormality of the hand [HPO term]
- Aggressive behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blepharophimosis [HPO term]
- Bulbous nasal tip [HPO term]
- Bulbous nose [HPO term]
- Cleft palate [HPO term]
- Cryptorchidism [HPO term]
- Double aortic arch [HPO term]
- Hypocalcemia [HPO term]
- Hypoparathyroidism [HPO term]
- Hypotonia [HPO term]
- Impaired T cell function [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Interrupted aortic arch [HPO term]
- Microcephaly [HPO term]
- Mood swings [HPO term]
- Narrow palpebral fissure [HPO term]
- Nasal speech [HPO term]
- Open mouth [HPO term]
- Paranoia [HPO term]
- Pierre-Robin sequence [HPO term]
- Posterior embryotoxon [HPO term]
- Pulmonary artery atresia [HPO term]
- Recurrent infections [HPO term]
- Retinal vascular tortuosity [HPO term]
- Retrognathia [HPO term]
- Right aortic arch with mirror image branching [HPO term]
- Short stature [HPO term]
- Specific learning disability [HPO term]
- Submucous cleft hard palate [HPO term]
- Talipes [HPO term]
- Tetralogy of Fallot [HPO term]
- Umbilical hernia [HPO term]
- Underdeveloped nasal alae [HPO term]
- Unilateral primary pulmonary dysgenesis [HPO term]
- Velopharyngeal insufficiency [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- 22q11.2 deletion syndrome [ORDO Disease]
See also inter- (CISMeF)
- 22q11.2 deletion syndrome [ORDO Disease]
- CATCH 22 phenotype [ICD-11 Sub-sub category]
- DiGeorge sequence (disorder) [Inactive SNOMED CT concept]
- DiGeorge syndrome [MeSH concept]
- Shprintzen syndrome (disorder) [Inactive SNOMED CT concept]
- TBX1 wt Allele [NCIt concept]
- digeorge syndrome [MeSH Descriptor]
- shprintzen syndrome [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Shprintzen syndrome (disorder) [Inactive SNOMED CT concept]
- Velo-cardio-facial syndrome [MedDRA Preferred Term]
- Velo-cardio-facial syndrome [ICD-9 code]
- shprintzen syndrome [SNOMED Notion]
- velocardiofacial syndrome [MeSH concept]
- velocardiofacial syndrome [DO Concept]
Validated automatic mappings to NTBT
- chromosome 22, microdeletion 22 q11 [MeSH Supplementary Concept]

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