proud syndrome

Preferred Label : proud syndrome;

MeSH note : mutation in ARX;

MeSH synonym : ACC with abnormal genitalia; corpus callosum, agenesis of, with abnormal genitalia;

Details

Origin ID

C563110;

UMLS CUI

C0796124;

Automatic exact mappings (from CISMeF team)
- Borries' syndrome (disorder) [SNOMED CT concept]
- Bruns' syndrome (disorder) [SNOMED CT concept]
- Capgras' syndrome [MedDRA LLT]
- Capgras' syndrome (finding) [SNOMED CT concept]
- Carotid artery insufficiency syndrome (disorder) [SNOMED CT concept]
- Crush syndrome (disorder) [SNOMED CT concept]
- Disease (disorder) [SNOMED CT concept]
- Down syndrome [PASCAL descriptor]
- Edwards' syndrome [MedDRA LLT]
- Eosinophilic cellulitis (disorder) [SNOMED CT concept]
- Exudative retinopathy (disorder) [SNOMED CT concept]
- Fuchs' syndrome [MedDRA Preferred Term]
- H syndrome [PASCAL descriptor]
- Jervis' syndrome (disorder) [SNOMED CT concept]
- Meigs Syndrome [NCIt concept]
- Meigs' syndrome [MedDRA Preferred Term]
- Meigs' syndrome (disorder) [SNOMED CT concept]
- Menkes' syndrome [MedDRA Preferred Term]
- Milles' syndrome [MedDRA LLT]
- Moebius II syndrome [MedDRA Preferred Term]
- Moyamoya disease (disorder) [SNOMED CT concept]
- Olivopontocerebellar degeneration (disorder) [SNOMED CT concept]
- Oromandibular-limb hypogenesis spectrum (disorder) [SNOMED CT concept]
- Peripartum cardiomyopathy [ORDO Disease]
- Polypoid sinus degeneration (disorder) [SNOMED CT concept]
- Sotos' syndrome [MedDRA Preferred Term]
- Sotos' syndrome (disorder) [SNOMED CT concept]
- Spens' syndrome [MedDRA LLT]
- Sturge-Weber syndrome [MedDRA Preferred Term]
- Syndrome [NCIt concept]
- Trisomy 18 [MedDRA Preferred Term]
- WHIM syndrome [PASCAL descriptor]
- Wells syndrome [PASCAL descriptor]
- X Syndrome [PASCAL descriptor]
- borries' syndrome [SNOMED Notion]
- bruns' syndrome [SNOMED Notion]
- capgras' syndrome [SNOMED Notion]
- down syndrome [MedlinePlus Topic]
- four x syndrome [SNOMED Notion]
- jervis' syndrome [SNOMED Notion]
- meigs' syndrome [SNOMED Notion]
- sotos' syndrome [SNOMED Notion]
Currated CISMeF NLP mapping
- Agenesis of corpus callosum and abnormal genitalia syndrome (disorder) [SNOMED CT concept]
- Corpus callosum agenesis-abnormal genitalia syndrome [ORDO Disease]
- Corpus callosum, agenesis of, with abnormal genitalia [OMIM Phenotype]
- corpus callosum agenesis-abnormal genitalia syndrome [DO Concept]
MeSH term(s) associated for indexing
- agenesis of corpus callosum [MeSH Descriptor]
- genetic diseases, X-linked [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- urogenital abnormalities [MeSH Descriptor]
Record concept(s)
- proud syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Agenesis of corpus callosum and abnormal genitalia syndrome (disorder) [SNOMED CT concept]
- Corpus callosum agenesis-abnormal genitalia syndrome [ORDO Disease]
- Corpus callosum, agenesis of, with abnormal genitalia [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients