Chromosome 22q11.2 deletion syndrome, distal

Preferred Label : Chromosome 22q11.2 deletion syndrome, distal;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Distal chromosome 22q11.2 deletion syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Contiguous gene deletion of less than 3Mb on distal chromosome 22q11.2;

Neoplasia : Malignant renal/extra-renal/CNS rhabdoid tumors;

Prefixed ID : #611867;

Détails

Origin ID

611867;

UMLS CUI

C2678480;

Currated CISMeF NLP mapping
- Distal 22q11.2 microdeletion syndrome [ORDO Disease]
- Distal 22q11.2 microdeletion syndrome (disorder) [SNOMED CT concept]
- chromosome 22q11.2 deletion syndrome, distal [DO Concept]
- chromosome 22q11.2 deletion syndrome, distal [MeSH concept]
- chromosome 22q11.2 deletion syndrome, distal [MeSH Supplementary Concept]
DO Cross reference
- chromosome 22q11.2 deletion syndrome, distal [DO Concept]
HPO term(s)
- Abnormality of cardiovascular system morphology [HPO term]
- Behavioral abnormality [HPO term]
- Cleft palate [HPO term]
- Deeply set eye [HPO term]
- Global developmental delay [HPO term]
- Highly arched eyebrow [HPO term]
- Intrauterine growth retardation [HPO term]
- Malar flattening [HPO term]
- Pointed chin [HPO term]
- Short stature [HPO term]
- Smooth philtrum [HPO term]
- Thin upper lip vermilion [HPO term]
- Truncus arteriosus [HPO term]
- Underdeveloped nasal alae [HPO term]
ORDO concept(s)
- Distal 22q11.2 microdeletion syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Distal 22q11.2 microdeletion syndrome [ORDO Disease]
- chromosome 22q11.2 deletion syndrome, distal [MeSH Supplementary Concept]
- chromosome 22q11.2 deletion syndrome, distal [MeSH concept]
- chromosome 22q11.2 deletion syndrome, distal [DO Concept]

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