Phakomatosis - CISMeF

Preferred Label : Phakomatosis;

NCIt synonyms : Phacomatosis; Neuro-Oculo-Cutaneous Syndrome;

NCIt related terms : Neurocutaneous Syndrome;

NCIt definition : One of the hereditary syndromes that are associated with lesions of the nervous system, skin, and retina. This group includes neurofibromatosis, tuberous sclerosis, von Hippel-Lindau syndrome, and Sturge-Weber syndrome.;

Details

Origin ID

C84348;

UMLS CUI

C0265316;

Automatic exact mappings (from CISMeF team)
- Neurocutaneous syndrome [ACR pathology]
- Phakomatosis, unspecified [ICD-10 Sub-category (who)]
- basal cell nevus syndrome [MeSH Descriptor]
Currated CISMeF NLP mapping
- Neurocutaneous syndrome (disorder) [SNOMED CT concept]
- Phacomatosis [PASCAL descriptor]
- Phakomatosis [MedDRA Preferred Term]
- Phakomatosis, unspecified [ICD-10 Sub-category]
- neurocutaneous syndrome [Disease (Nov.)]
- neurocutaneous syndrome [Radlex concept]
- neurocutaneous syndromes [MeSH Descriptor]
- neurocutaneous syndromes [MeSH concept]
- neuroectodermal dysplasia, nos [SNOMED Notion]
See also inter- (CISMeF)
- Neurofibromatosis type 3 [ICD-11 Sub-sub category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neurocutaneous syndrome (disorder) [SNOMED CT concept]
- Phakomatosis [MedDRA Preferred Term]
- Phakomatosis, unspecified [ICD-10 Sub-category]
- neurocutaneous syndrome [Radlex concept]
- neurocutaneous syndrome [Disease (Nov.)]
- neurocutaneous syndromes [MeSH Descriptor]
- neurocutaneous syndromes [MeSH concept]
- neuroectodermal dysplasia, nos [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_excludes_molecular_abnormality
- BMPR1A Gene Mutation [NCIt concept]
- PTCH1 Gene Mutation [NCIt concept]
- PTEN Gene Mutation [NCIt concept]
- SMAD4 Gene Mutation [NCIt concept]
- STK11 Gene Mutation [NCIt concept]
disease_has_associated_disease
- Hamartoma [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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