Aicardi syndrome

Preferred Label : Aicardi syndrome;

Symbol : AIC;

CISMeF acronym : AIC;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Corpus callosum, agenesis of, with chorioretinal abnormality;

Description : Aicardi syndrome is characterized by a triad of callosal agenesis, infantile spasms, and chorioretinal lacunae ('holes'). Flexion spasms in the infant represent the usual mode of clinical presentation (Aicardi, 1999).;

Inheritance : X-linked dominant;

Neoplasia : Hepatoblastoma; Benign teratoma; Embryonal carcinoma; Metastatic angiosarcoma;

Prefixed ID : %304050;

Details

Origin ID

304050;

UMLS CUI

C0175713;

Automatic exact mappings (from CISMeF team)
- Aicardi syndrome [HGNC gene]
- stroke [MeSH Descriptor]
Currated CISMeF NLP mapping
- Aicardi Syndrome [NCIt concept]
- Aicardi syndrome [PASCAL descriptor]
- Aicardi syndrome [DO Concept]
- Aicardi syndrome [Disease (Nov.)]
- Aicardi syndrome [ICD-11 More detail]
- Aicardi syndrome [ORDO Disease]
- Aicardi's syndrome [MedDRA Preferred Term]
- Aicardi's syndrome (disorder) [SNOMED CT concept]
- aicardi syndrome [MeSH Descriptor]
- aicardi syndrome [MeSH concept]
- aicardi's syndrome [SNOMED Notion]
DO Cross reference
- Aicardi syndrome [DO Concept]
HPO term(s)
- Abnormality of the skin [HPO term]
- Anteverted nares [HPO term]
- Bifid ribs [HPO term]
- Bilateral chorioretinopathy [HPO term]
- Block vertebrae [HPO term]
- Butterfly vertebrae [HPO term]
- Carcinoma [HPO term]
- Cataract [HPO term]
- Cavum septum pellucidum [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Chiari malformation [HPO term]
- Chorioretinal lacunae [HPO term]
- Choroid plexus cyst [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Dandy-Walker malformation [HPO term]
- Delayed CNS myelination [HPO term]
- Dilated third ventricle [HPO term]
- Dilation of lateral ventricles [HPO term]
- Epileptic spasm [HPO term]
- Facial asymmetry [HPO term]
- Generalized hypotonia [HPO term]
- Gray matter heterotopia [HPO term]
- Hemangioma [HPO term]
- Hemivertebrae [HPO term]
- Hepatoblastoma [HPO term]
- Hiatus hernia [HPO term]
- Hypotonia [HPO term]
- Infantile seizures [HPO term]
- Infantile spasms [HPO term]
- Intellectual disability, profound [HPO term]
- Lipoma [HPO term]
- Metastatic angiosarcoma [HPO term]
- Microcephaly [HPO term]
- Microphthalmia [HPO term]
- Missing ribs [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Optic disc coloboma [HPO term]
- Pachygyria [HPO term]
- Partial agenesis of the corpus callosum [HPO term]
- Polymicrogyria [HPO term]
- Postnatal growth retardation [HPO term]
- Precocious puberty [HPO term]
- Prominence of the premaxilla [HPO term]
- Proximal placement of thumb [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent pneumonia [HPO term]
- Retinal detachment [HPO term]
- Rib fusion [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Skin tags [HPO term]
- Sparse lateral eyebrow [HPO term]
- Spina bifida [HPO term]
- Supernumerary ribs [HPO term]
- Teratoma [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- Aicardi syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aicardi Syndrome [NCIt concept]
- Aicardi syndrome [ORDO Disease]
- Aicardi syndrome [DO Concept]
- Aicardi syndrome [PASCAL descriptor]
- Aicardi syndrome [Disease (Nov.)]
- Aicardi's syndrome [MedDRA Preferred Term]
- Aicardi's syndrome (disorder) [SNOMED CT concept]
- aicardi syndrome [MeSH Descriptor]
- aicardi syndrome [MeSH concept]
- aicardi's syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients