Acrocallosal syndrome

Preferred Label : Acrocallosal syndrome;

ICD-11 definition : Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.;

ICD-11 acronym : ACS;

Details

Origin ID

1286493807;

Automatic exact mappings (from CISMeF team)
- 1-aminocyclopropane-1-carboxylate synthase [OMIM gene]
- Acetyl-coa synthetase short chain family, member 2 [OMIM gene]
- Acrocephalosyndactyly [ORDO Disease]
- Activity Card Sort [NCIt concept]
- Acute Chest Syndrome [NCIt concept]
- American Cancer Society [NCIt concept]
- American College of Surgeons [NCIt concept]
- CO-methylating acetyl-CoA synthase activity [GO term]
- GDC AJCC Clinical Stage Terminology [NCIt concept]
- Lysophospholipase 3 [OMIM gene]
- acetate-CoA ligase activity [GO term]
Currated CISMeF NLP mapping
- Acrocallosal Syndrome [NCIt concept]
- Acrocallosal syndrome [ORDO Disease]
- Acrocallosal syndrome [MedDRA Preferred Term]
- Acrocallosal syndrome (disorder) [SNOMED CT concept]
- acrocallosal syndrome [MeSH Descriptor]
- acrocallosal syndrome [MeSH concept]
- acrocallosal syndrome [DO Concept]
- acrocallosal syndrome [Disease (Nov.)]
False automatic mappings
- American Community Survey [NCIt concept]
Validated automatic mappings to BTNT
- Acrocallosal syndrome [OMIM Phenotype]
- Acrocallosal syndrome, Schinzel type [MeSH concept]
- acrocallosal syndrome, schinzel type [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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