basal cell nevus syndrome

Preferred Label : basal cell nevus syndrome;

MeSH definition : Hereditary disorder consisting of multiple basal cell carcinomas, odontogenic keratocysts, and multiple skeletal defects, e.g., frontal and temporoparietal bossing, bifurcated and splayed ribs, kyphoscoliosis, fusion of vertebrae, and cervicothoracic spina bifida. Genetic transmission is autosomal dominant.;

MeSH synonym : syndrome, gorlin; nevus syndrome, basal cell; gorlin syndrome; nevoid basal cell carcinoma syndrome; multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies; fifth phacomatosis; fifth phacomatoses; Gorlin-Goltz syndrome; gorlin goltz syndrome; syndrome, Gorlin-Goltz; NBCCS;

Wikipedia automatic translation : Nevoid basal-cell carcinoma syndrome;

MeSH annotation : coordinate IM with precoordinated organ/neoplasm (IM or NIM) only if pertinent; do not confuse entry term GORLIN-GOLTZ SYNDROME with GOLTZ- GORLIN SYNDROME see FOCAL DERMAL HYPOPLASIA;

Wikipedia link : https://en.wikipedia.org/wiki/Nevoid basal-cell carcinoma syndrome;

Details

Origin ID

D001478;

UMLS CUI

C0004779;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Basal cell nevus syndrome [ACR pathology]
- Basal cell nevus syndrome [ACR pathology]
- Focal dermal hypoplasia [OMIM Phenotype]
- Goltz syndrome (disorder) [SNOMED CT concept]
- Gorlin syndrome [ICD-11 Subcategory]
- Gorlin-Goltz syndrome [MedDRA LLT]
- Neurocutaneous syndrome (disorder) [SNOMED CT concept]
- PTCH1 wt Allele [NCIt concept]
- Phacomatosis [PASCAL descriptor]
- Phakomatosis [NCIt concept]
- patched 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Basal cell naevus syndrome [MedDRA Preferred Term]
- Basal cell nevus syndrome [PASCAL descriptor]
- Basal cell nevus syndrome [MedDRA LLT]
- Basal cell nevus syndrome 1 [OMIM Phenotype]
- Gorlin syndrome [ORDO Disease]
- Gorlin syndrome (disorder) [SNOMED CT concept]
- Nevoid Basal Cell Carcinoma Syndrome [NCIt concept]
- gorlin syndrome [SNOMED Notion]
- nevoid basal cell carcinoma syndrome [DO Concept]
DO Cross reference
- nevoid basal cell carcinoma syndrome [DO Concept]
False automatic mappings
- Focal dermal hypoplasia [ORDO Disease]
- goltz syndrome [SNOMED Notion]
Manual NTBT mappings (CISMeF)
- Connective tissue disease with eye involvement [ORDO Disease]
- Ectodermal dysplasia syndrome [ORDO Disease]
- Genetic mixed dermis disorder [ORDO Disease]
- Genetic skin tumor or hamartoma [ORDO Disease]
- Inherited cancer-predisposing syndrome [ORDO Disease]
- Lens shape anomaly [ORDO Disease]
- Malformation syndrome with hamartosis [ORDO Disease]
- Malignant tumor of palpebral epidermis [ORDO Disease]
- Mixed dermis disorder [ORDO Disease]
- Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome [ORDO Disease]
- Rare skin tumor or hamartoma [ORDO Disease]
- Syndromic developmental defect of the eye [ORDO Disease]
- X-linked syndromic intellectual disability [ORDO Disease]
- Zlotogura-Martinez syndrome [ORDO Disease]
Ne pas confondre avec
- focal dermal hypoplasia [MeSH Descriptor]
Record concept(s)
- basal cell nevus syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- aloi tomasini isaia syndrome [MeSH Supplementary Concept]
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 [NCIt concept]
- Nevoid basal-cell carcinoma syndrome [MedDRA LLT]
- gorlin syndrome [SNOMED Notion]
- nevoid basal cell carcinoma syndrome [DO Concept]
- nevoid basal cell carcinoma syndrome [Disease (Nov.)]
Validated automatic mappings to BTNT
- nevoid basal cell carcinoma syndrome [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients