loading...| Preferred Name |
Basal Cell Nevus Syndrome |
|
| Synonyms |
NBCCS |
|
| Definitions |
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. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D001478 |
|
| altLabel |
NBCCS Syndrome, Gorlin Fifth Phacomatoses Nevoid Basal Cell Carcinoma Syndrome Gorlin Goltz Syndrome Gorlin Syndrome Multiple Basal Cell Nevi, Odontogenic Keratocysts, and Skeletal Anomalies Gorlin-Goltz Syndrome Nevus Syndrome, Basal Cell Fifth Phacomatosis Syndrome, Gorlin-Goltz |
|
| AN |
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 |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0004779 |
|
| DC |
1 |
|
| 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. |
|
| DX |
19910101 |
|
| HN |
91(80); was see under CARCINOMA, BASAL CELL 1980-90 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
91; was see under CARCINOMA, BASAL CELL 1980-90 |
|
| Mapped from | ||
| MDA |
19790425 |
|
| MMR |
20130708 |
|
| MN |
C16.131.077.130 C04.700.175 C04.557.470.565.165.150 C05.500.470.690.150 C05.116.099.105 C16.320.700.175 C07.320.450.670.130 C04.182.089.530.690.150 C04.557.470.200.165.150 |
|
| notation |
D001478 |
|
| prefLabel |
Basal Cell Nevus Syndrome |
|
| TERMUI |
T004293 T746381 T782123 T746383 T004294 T843436 T004296 T004295 |
|
| TH |
OMIM (2013) NLM (2012) UNK (19XX) GHR (2014) NLM (1980) NLM (2014) ORD (2010) |
|
| tui |
T191 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D009807 http://purl.bioontology.org/ontology/MESH/D002280 http://purl.bioontology.org/ontology/MESH/D000015 |