Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
Reference Sets |
3304461012 |
Frontofacionasal dysplasia syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
GB English: Preferred (foundation metadata concept) |
3304462017 |
Frontofacionasal dysplasia syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
GB English: Acceptable (foundation metadata concept) |
3304463010 |
Gollop syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
GB English: Preferred (foundation metadata concept) |
3304464016 |
Fronto-facio-nasal dysplasia |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
GB English: Acceptable (foundation metadata concept) |
3304465015 |
Rare disorder with features of multiple craniofacial anomalies; brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes. The syndrome is inherited in an autosomal recessive manner. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
GB English: Preferred (foundation metadata concept) |