Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Nov 2025. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5497059016 | Craniosynostosis, facial dysmorphism, Chiari-1 malformation, developmental and language delay syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5497060014 | Craniosynostosis, facial dysmorphism, Chiari-1 malformation, developmental and language delay syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5497061013 | ERF-related syndromic craniosynostosis | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5497062018 | A rare syndromic craniosynostosis characterised by developmental delay, poor gross and/or fine motor control, speech and language delay, learning difficulties and/or behavioural problems (including hyperactivity and poor concentration), facial dysmorphism and Chiari-1 malformation (not always present). Most of the patients present with postnatal-onset, progressive multisutural synostosis, including sagittal and uni/bi-lambdoid sutures (predominated patterns), coronal synostosis or pansynostosis. Permanent visual impairment due to raised intracranial pressure was reported in some patients. Facial dysmorphism including prominent forehead, orbital hypertelorism, mild exorbitism and malar hypoplasia, medial epicanthic folds and short up-turned nose is commonly observed. Hydrocephalus, macrocephaly, low set ears, dysplastic auricles, long philtrum, vertical displacement of the nose and high arched palate are also reported in some patients. Additional clinical findings may include hearing impairment and mild shortening of the digits. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5497063011 | A rare syndromic craniosynostosis characterized by developmental delay, poor gross and/or fine motor control, speech and language delay, learning difficulties and/or behavioral problems (including hyperactivity and poor concentration), facial dysmorphism and Chiari-1 malformation (not always present). Most of the patients present with postnatal-onset, progressive multisutural synostosis, including sagittal and uni/bi-lambdoid sutures (predominated patterns), coronal synostosis or pansynostosis. Permanent visual impairment due to raised intracranial pressure was reported in some patients. Facial dysmorphism including prominent forehead, orbital hypertelorism, mild exorbitism and malar hypoplasia, medial epicanthic folds and short up-turned nose is commonly observed. Hydrocephalus, macrocephaly, low set ears, dysplastic auricles, long philtrum, vertical displacement of the nose and high arched palate are also reported in some patients. Additional clinical findings may include hearing impairment and mild shortening of the digits. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Craniosynostosis, facial dysmorphism, Chiari-1 malformation, developmental and language delay syndrome | Is a | Craniosynostosis syndrome | true | Inferred relationship | Some | ||
| Craniosynostosis, facial dysmorphism, Chiari-1 malformation, developmental and language delay syndrome | Is a | Genetic disease | true | Inferred relationship | Some | ||
| Craniosynostosis, facial dysmorphism, Chiari-1 malformation, developmental and language delay syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Craniosynostosis, facial dysmorphism, Chiari-1 malformation, developmental and language delay syndrome | Finding site | Joint structure of suture of skull | true | Inferred relationship | Some | 1 | |
| Craniosynostosis, facial dysmorphism, Chiari-1 malformation, developmental and language delay syndrome | Associated morphology | Premature fusion | true | Inferred relationship | Some | 1 | |
| Craniosynostosis, facial dysmorphism, Chiari-1 malformation, developmental and language delay syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR