Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Apr 2022. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5035219012 | Developmental delay, short stature, dysmorphic features, sparse hair syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 5035220018 | Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| 5035221019 | Loucks Innes syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 5035222014 | Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome | Is a | Intellectual disability | true | Inferred relationship | Existential restriction modifier | ||
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome | Is a | Dysostosis of bone of skull | true | Inferred relationship | Existential restriction modifier | ||
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome | Is a | Short stature disorder | true | Inferred relationship | Existential restriction modifier | ||
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome | Is a | Congenital ectodermal defect | true | Inferred relationship | Existential restriction modifier | ||
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome | Is a | Congenital anomaly of face bones | true | Inferred relationship | Existential restriction modifier | ||
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Existential restriction modifier | ||
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Existential restriction modifier | ||
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome | Is a | Lesion of face | true | Inferred relationship | Existential restriction modifier | ||
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome | Finding site | Bone structure of cranium | true | Inferred relationship | Existential restriction modifier | 1 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome | Associated morphology | Dysplasia | true | Inferred relationship | Existential restriction modifier | 1 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 2 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome | Finding site | Bone structure of face | true | Inferred relationship | Existential restriction modifier | 2 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome | Associated morphology | Dysplasia | true | Inferred relationship | Existential restriction modifier | 2 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 2 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 3 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome | Finding site | Ectoderm structure | true | Inferred relationship | Existential restriction modifier | 3 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 3 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 3 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome | Interprets | Body height | true | Inferred relationship | Existential restriction modifier | 4 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome | Has interpretation | Below reference range | true | Inferred relationship | Existential restriction modifier | 4 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier | 5 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 5 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome | Interprets | Intellectual ability | true | Inferred relationship | Existential restriction modifier | 6 | |
| Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 6 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR