Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2022. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4673256011 | Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 4673257019 | Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome | Is a | Intellectual disability | true | Inferred relationship | Existential restriction modifier | ||
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome | Is a | Chronic disease of musculoskeletal system | true | Inferred relationship | Existential restriction modifier | ||
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome | Is a | Chronic mental disorder | false | Inferred relationship | Existential restriction modifier | ||
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome | Is a | Global developmental delay | true | Inferred relationship | Existential restriction modifier | ||
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome | Is a | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Existential restriction modifier | ||
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome | Is a | Spondyloepimetaphyseal disorder | true | Inferred relationship | Existential restriction modifier | ||
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Existential restriction modifier | ||
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome | Is a | Brachymetatarsia of fourth metatarsal | true | Inferred relationship | Existential restriction modifier | ||
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome | Clinical course | Progressive | true | Inferred relationship | Existential restriction modifier | 5 | |
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome | Interprets | Body height measure | true | Inferred relationship | Existential restriction modifier | 4 | |
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome | Has interpretation | Below reference range | true | Inferred relationship | Existential restriction modifier | 4 | |
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome | Finding site | Entire fourth metatarsal | true | Inferred relationship | Existential restriction modifier | 1 | |
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome | Associated morphology | Abnormally short growth | true | Inferred relationship | Existential restriction modifier | 1 | |
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 2 | |
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome | Finding site | Bone structure | true | Inferred relationship | Existential restriction modifier | 2 | |
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome | Associated morphology | Dysplasia | true | Inferred relationship | Existential restriction modifier | 2 | |
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 2 | |
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 3 | |
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome | Finding site | Face structure | true | Inferred relationship | Existential restriction modifier | 3 | |
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 3 | |
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 3 | |
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome | Interprets | Intellectual ability | true | Inferred relationship | Existential restriction modifier | 6 | |
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 6 | |
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier | 7 | |
| Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 7 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR