loading...| Preferred Name |
velocardiofacial syndrome |
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| Synonyms |
VCF-velocardiofacial syndrome 22q11 deletion syndrome velocardiofacial syndrome Shprintzen syndrome deletion 22q11.2 syndrome chromosome 22Q11.2 deletion syndrome Vcf syndrome Shprintzen Vcf syndrome |
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| Definitions |
A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0008644 |
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| closeMatch | ||
| database_cross_reference |
UMLS:CN205308 ICD9:758.32 DOID:12583 OMIM:192430 ICD10:Q93.81 |
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| exactMatch |
http://purl.obolibrary.org/obo/DOID_12583 |
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| has exact synonym |
VCF-velocardiofacial syndrome 22q11 deletion syndrome velocardiofacial syndrome Shprintzen syndrome deletion 22q11.2 syndrome |
|
| has related synonym |
chromosome 22Q11.2 deletion syndrome Vcf syndrome Shprintzen Vcf syndrome |
|
| id |
MONDO:0008644 |
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| imported from | ||
| label |
velocardiofacial syndrome |
|
| notation |
MONDO:0008644 |
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| prefLabel |
velocardiofacial syndrome |
|
| textual definition |
A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features. |
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| subClassOf |