Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3302500010 |
Trigonocephaly C syndrome (disorder) |
en |
Fully specified name |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
3302501014 |
Trigonocephaly C syndrome |
en |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
3302502019 |
C syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
6738381000146119 |
C-syndroom |
nl |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6738391000146117 |
C-syndroom (aandoening) |
nl |
Fully specified name |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6738401000146119 |
OTCS |
nl |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6738411000146117 |
trigonocefalie C-syndroom |
nl |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6738421000146110 |
Opitz-trigonocefaliesyndroom |
nl |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6738431000146112 |
trigonocefaliesyndroom van Opitz |
nl |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT Netherlands NRC maintained module (core metadata concept) |
3302503012 |
A rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability. The etiology of C syndrome is still unknown. Although most of the reported patients are sporadic, rare cases of familial occurrence have been described. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3302504018 |
A rare multiple congenital anomaly/intellectual disability syndrome characterised by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability. The aetiology of C syndrome is still unknown. Although most of the reported patients are sporadic, rare cases of familial occurrence have been described. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |