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loading...| Preferred Name | Phakomatosis | |
| Synonyms |
Phakomatosis Phacomatosis Neurocutaneous Syndrome |
|
| Definitions |
A hereditary syndrome affecting the central nervous system that is associated with lesions of the skin and retina. Representative examples include neurofibromatosis, tuberous sclerosis, von Hippel-Lindau syndrome, and Sturge-Weber syndrome. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84348 |
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| code |
C84348 |
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| Concept_In_Subset | ||
| Contributing_Source |
NICHD |
|
| DEFINITION |
A hereditary syndrome affecting the central nervous system that is associated with lesions of the skin and retina. Representative examples include neurofibromatosis, tuberous sclerosis, von Hippel-Lindau syndrome, and Sturge-Weber syndrome. |
|
| FULL_SYN |
Phakomatosis Phacomatosis Neurocutaneous Syndrome |
|
| label |
Phakomatosis |
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| Maps_To |
Phakomatoses, not elsewhere classified |
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| Preferred_Name |
Phakomatosis |
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| prefixIRI |
Thesaurus:C84348 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0265316 |
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| subClassOf |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/NCIT_C84348 | BERO | LOOM | |
| http://purl.bioontology.org/ontology/MEDDRA/10048734 | MEDDRA | LOOM |