Nevoid Basal Cell Carcinoma Syndrome

Preferred Label : Nevoid Basal Cell Carcinoma Syndrome;

NCIt synonyms : Gorlin-Goltz Syndrome; Basal Cell Nevus Syndrome; Multiple Basal Cell Carcinomas;

NCIt related terms : Nevoid Basal Cell Cancer Syndrome;

NCIt definition : An autosomal dominant genetic syndrome caused by abnormalities in the PTCH and SUFU gene. It is characterized by multiple basal cell carcinomas at a young age, odontogenic keratocysts, and skeletal defects (bifurcated and splayed ribs, fusion of vertebrae, spinal bifida). Patients with this syndrome may also develop medulloblastomas and ovarian fibromas.;

Alternative definition : NCI-GLOSS: A genetic condition that causes unusual facial features and disorders of the skin, bones, nervous system, eyes, and endocrine glands. People with this syndrome have a higher risk of basal cell carcinoma.;

Codes from synonyms : CDR0000442897; CDR0000256555; CDR0000322806;

Details

Origin ID

C2892;

UMLS CUI

C0004779;

Automatic exact mappings (from CISMeF team)
- Basal cell carcinoma, susceptibility to, 1 [OMIM Phenotype]
- Basal cell nevus syndrome [ACR pathology]
- Focal dermal hypoplasia [OMIM Phenotype]
- Focal dermal hypoplasia [ORDO Disease]
- Goltz syndrome (disorder) [SNOMED CT concept]
- Gorlin syndrome [ICD-11 Subcategory]
- Gorlin-Goltz syndrome [MedDRA LLT]
- basal cell carcinoma, multiple [MeSH Supplementary Concept]
- basal cell carcinoma, multiple [MeSH concept]
- focal dermal hypoplasia [MeSH concept]
Currated CISMeF NLP mapping
- Basal cell naevus syndrome [MedDRA Preferred Term]
- Basal cell nevus syndrome [PASCAL descriptor]
- Basal cell nevus syndrome [ACR pathology]
- Basal cell nevus syndrome [OMIM phenotypic series]
- Basal cell nevus syndrome [MedDRA LLT]
- Gorlin syndrome [ORDO Disease]
- Gorlin syndrome (disorder) [SNOMED CT concept]
- basal cell nevus syndrome [MeSH Descriptor]
- basal cell nevus syndrome [MeSH concept]
- gorlin syndrome [SNOMED Notion]
- nevoid basal cell carcinoma syndrome [Disease (Nov.)]
- nevoid basal cell carcinoma syndrome [DO Concept]
DO Cross reference
- nevoid basal cell carcinoma syndrome [DO Concept]
Disease may have findings
- Cardiac Fibroma [NCIt concept]
- Cerebral Calcification [NCIt concept]
False automatic mappings
- focal dermal hypoplasia [MeSH Descriptor]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Basal cell naevus syndrome [MedDRA Preferred Term]
- Basal cell nevus syndrome [MedDRA LLT]
- Basal cell nevus syndrome 1 [OMIM Phenotype]
- Gorlin syndrome [ORDO Disease]
- Gorlin syndrome (disorder) [SNOMED CT concept]
- Gorlin-Goltz syndrome [MedDRA LLT]
- Nevoid basal-cell carcinoma syndrome [MedDRA LLT]
- basal cell nevus syndrome [MeSH Descriptor]
- basal cell nevus syndrome [MeSH concept]
- gorlin syndrome [SNOMED Notion]
- nevoid basal cell carcinoma syndrome [DO Concept]
- nevoid basal cell carcinoma syndrome [Disease (Nov.)]
Validated automatic mappings to BTNT
- Basal cell nevus syndrome 1 [OMIM Phenotype]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
- HL Authorized Value Terminology [NCIt concept]
- HL Medical History Table [NCIt concept]
disease_has_associated_disease
- Skin Basal Cell Carcinoma [NCIt concept]
disease_has_associated_disease
- Nevoid Basal Cell Carcinoma Syndrome Associated Medulloblastoma [NCIt concept]
disease_has_finding
- Calcifying Odontogenic Cyst [NCIt concept]
- Hereditary Lesion [NCIt concept]
disease_mapped_to_gene
- PTCH1 Gene [NCIt concept]
- PTCH2 Gene [NCIt concept]
- SUFU Gene [NCIt concept]
disease_may_have_associated_disease
- Fetal Rhabdomyoma [NCIt concept]
- Macrocephaly [NCIt concept]
- Medulloblastoma [NCIt concept]
- Ovarian Fibroma [NCIt concept]
disease_may_have_molecular_abnormality
- PTCH1 Gene Mutation [NCIt concept]
- PTCH2 Gene Mutation [NCIt concept]
- SUFU Gene Mutation [NCIt concept]
may_be_associated_disease_of_disease
- Childhood Ovarian Fibroma [NCIt concept]
- Ovarian Cellular Fibroma [NCIt concept]
- Ovarian Fibroma [NCIt concept]
- Ovarian Fibrosarcoma [NCIt concept]
pathogenesis_of_disease_involves_gene
- PTCH1 Gene [NCIt concept]
- PTCH1 wt Allele [NCIt concept]
- PTCH2 Gene [NCIt concept]
- PTCH2 wt Allele [NCIt concept]
- SUFU Gene [NCIt concept]
- SUFU wt Allele [NCIt concept]
related_to_genetic_biomarker
- PTCH1 Gene [NCIt concept]
- SUFU Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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