Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3322158013 |
Capra DeMarco syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3322159017 |
Capra DeMarco syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3322160010 |
Familial scaphocephaly with radioulnar synostosis syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3322161014 |
Berant syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3322162019 |
Craniosynostosis, hydrocephalus, Arnold Chiari I malformation, radioulnar synostosis |
en |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
6598041000146119 |
syndroom van Capra-DeMarco |
nl |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6598061000146118 |
Capra-DeMarco-syndroom |
nl |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Netherlands NRC maintained module (core metadata concept) |
8258651000146119 |
syndroom van familiale scafocefalie en radio-ulnaire synostose |
nl |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Netherlands NRC maintained module (core metadata concept) |
8258661000146116 |
syndroom van craniosynostose, hydrocefalie, malformatie van Arnold-Chiari type 1 en radio-ulnaire synostose |
nl |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT Netherlands NRC maintained module (core metadata concept) |
10662731000146112 |
Capra-DeMarco-syndroom (aandoening) |
nl |
Fully specified name |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Netherlands NRC maintained module (core metadata concept) |
3322163012 |
Syndrome with characteristics of sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism. The syndrome was described in two brothers from a non-consanguineous family. No causative mutation has been identified so far. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |