Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5035219012 | Developmental delay, short stature, dysmorphic features, sparse hair syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5035220018 | Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5035221019 | Loucks Innes syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5035222014 | Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5035223016 | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism (including an abnormal skull shape, hypertelorism, downslanting palpebral fissures, epicanthal folds, low-set ears, depressed nasal bridge, micrognathia), short stature, ectodermal anomalies (such as sparse eyebrows, eyelashes, and scalp hair, hypoplastic toenails), developmental delay, and intellectual disability. Additional features may include cerebral/cerebellar malformations and mild renal involvement. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | est un(e) (attribut) | Dysostosis of bone of skull | true | Inferred relationship | Some | ||
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | est un(e) (attribut) | insuffisance staturale | true | Inferred relationship | Some | ||
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | est un(e) (attribut) | Congenital ectodermal defect | true | Inferred relationship | Some | ||
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of face bones | true | Inferred relationship | Some | ||
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | est un(e) (attribut) | Lesion of face (finding) | true | Inferred relationship | Some | ||
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | crâne (structure corporelle) | true | Inferred relationship | Some | 1 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 1 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | os de la face (structure corporelle) | true | Inferred relationship | Some | 2 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 2 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | Ectoderm structure | true | Inferred relationship | Some | 3 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 3 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | interprète (attribut) | taille corporelle (entité observable) | true | Inferred relationship | Some | 4 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR