Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3723210011 | Kreiborg Pakistani syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3723213013 | Craniosynostosis and dental anomalies syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3723214019 | Craniosynostosis and dental anomalies syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3723215018 | A rare genetic cranial malformation syndrome with characteristics of premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. Variable digital anomalies (for example finger and/or toe syndactyly, clinodactyly), short stature, cognitive and/or motor delay, high palate, ear deformity and conductive hearing loss have also been reported. There is evidence this disease is caused by homozygous mutation in the IL11RA gene on chromosome 9p13. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
10738881000172112 | syndrome de craniosynostose et anomalies dentaires | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
10738891000172110 | syndrome de Kreiborg-Pakistani | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
10738901000172114 | syndrome de craniosténose et anomalies dentaires | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
5040031000172114 | syndroom van Kreiborg-Pakistani | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
5040041000172119 | syndroom van craniosynostose en dentale anomalieën | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets