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 |
| 5399926011 | A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by 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 |
| 5399927019 | A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterised by 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) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | Is a | Dysostosis of bone of skull | true | Inferred relationship | Some | ||
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | Is a | Congenital ectodermal defect | true | Inferred relationship | Some | ||
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | Is a | Congenital anomaly of face bones | true | Inferred relationship | Some | ||
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | Is a | Lesion of face | true | Inferred relationship | Some | ||
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | Finding site | Bone structure of cranium | true | Inferred relationship | Some | 1 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | Associated morphology | Dysplasia | 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) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | Finding site | Bone structure of face | true | Inferred relationship | Some | 2 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | Associated morphology | Dysplasia | 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) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | Finding site | Ectoderm structure | true | Inferred relationship | Some | 3 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | 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) | Interprets | Body height (observable entity) | true | Inferred relationship | Some | 4 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 4 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 5 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 6 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 6 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR