Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Oct 2022. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5142877016 | Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 5142878014 | Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 5142879018 | Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities 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, macrocephaly, hypotonia, behavioral abnormalities syndrome | Is a | Intellectual disability | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome | Is a | Congenital macrocephaly | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome | Is a | Global developmental delay | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome | Is a | Pervasive developmental disorder | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome | Is a | Decreased muscle tone | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome | Is a | Poor muscle tone | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome | Is a | Disorder of skeletal muscle | true | Inferred relationship | Existential restriction modifier | ||
| Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome | Interprets | Muscle tone | true | Inferred relationship | Existential restriction modifier | 4 | |
| Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome | Has interpretation | Decreased | true | Inferred relationship | Existential restriction modifier | 4 | |
| Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome | Interprets | Intellectual ability | true | Inferred relationship | Existential restriction modifier | 5 | |
| Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 5 | |
| Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier | 6 | |
| Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 6 | |
| Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome | Interprets | Head circumference | true | Inferred relationship | Existential restriction modifier | 7 | |
| Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome | Has interpretation | Above reference range | true | Inferred relationship | Existential restriction modifier | 7 | |
| Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome | Finding site | Head structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome | Associated morphology | Enlargement | true | Inferred relationship | Existential restriction modifier | 1 | |
| Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
| Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 2 | |
| Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome | Finding site | Face structure | true | Inferred relationship | Existential restriction modifier | 2 | |
| Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 2 | |
| Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 2 | |
| Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 3 | |
| Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome | Finding site | Skeletal muscle structure | true | Inferred relationship | Existential restriction modifier | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR