Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Mar 2022. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4970752014 | Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 4970753016 | Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome | Is a | Intellectual disability | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome | Is a | Delayed bone age | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome | Is a | Short stature disorder | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome | Is a | Developmental delay | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome | Is a | Muscle weakness | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome | Is a | Disorder of skeletal muscle | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome | Is a | Disorder of bone | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome | Is a | Genetic disease | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome | Finding site | Skeletal muscle structure | true | Inferred relationship | Existential restriction modifier | 2 | |
| Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome | Finding site | Bone structure | true | Inferred relationship | Existential restriction modifier | 3 | |
| Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome | Finding site | Face structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
| Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome | Interprets | Body height measure | true | Inferred relationship | Existential restriction modifier | 4 | |
| Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome | Has interpretation | Below reference range | true | Inferred relationship | Existential restriction modifier | 4 | |
| Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier | 5 | |
| Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 5 | |
| Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome | Interprets | Intellectual ability | true | Inferred relationship | Existential restriction modifier | 6 | |
| Intellectual disability, muscle weakness, short stature, facial dysmorphism 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