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 |
| 5146460014 | Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 5146461013 | CLIFAHDD syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 5146462018 | Congenital contracture of limbs and face, hypotonia, developmental delay syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| 5146463011 | CLIFAHDD (congenital limbs, face contractures, hypotonia, developmental delay) syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | Is a | Intellectual disability | true | Inferred relationship | Existential restriction modifier | ||
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | Is a | Global developmental delay | true | Inferred relationship | Existential restriction modifier | ||
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | Is a | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Existential restriction modifier | ||
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | Is a | Distal arthrogryposis syndrome | true | Inferred relationship | Existential restriction modifier | ||
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | Is a | Joint deformity | true | Inferred relationship | Existential restriction modifier | ||
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | Is a | Lesion of joint | true | Inferred relationship | Existential restriction modifier | ||
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Existential restriction modifier | ||
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | Is a | Poor muscle tone | true | Inferred relationship | Existential restriction modifier | ||
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | Is a | Congenital deformity of face | true | Inferred relationship | Existential restriction modifier | ||
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | Is a | Deformity of limb | true | Inferred relationship | Existential restriction modifier | ||
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | Is a | Disorder of skeletal muscle | true | Inferred relationship | Existential restriction modifier | ||
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | Is a | Lesion of face | true | Inferred relationship | Existential restriction modifier | ||
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | Is a | Congenital anomaly of joint | true | Inferred relationship | Existential restriction modifier | ||
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | Interprets | Muscle tone | true | Inferred relationship | Existential restriction modifier | 7 | |
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | Finding site | Skeletal muscle structure | true | Inferred relationship | Existential restriction modifier | 6 | |
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | Interprets | Range of joint movement | true | Inferred relationship | Existential restriction modifier | 3 | |
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | Has interpretation | Decreased | true | Inferred relationship | Existential restriction modifier | 3 | |
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | Interprets | Intellectual ability | true | Inferred relationship | Existential restriction modifier | 4 | |
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 4 | |
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier | 5 | |
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 5 | |
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | Finding site | Joint structure of limb | true | Inferred relationship | Existential restriction modifier | 1 | |
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | Associated morphology | Contracture | true | Inferred relationship | Existential restriction modifier | 1 | |
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 2 | |
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | Finding site | Face structure | true | Inferred relationship | Existential restriction modifier | 2 | |
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | Associated morphology | Contracture | true | Inferred relationship | Existential restriction modifier | 2 | |
| Congenital contracture of limbs and face, hypotonia, developmental delay syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR