Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3724864012 | SOFT syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
3724865013 | Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
3724866014 | Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
3724867017 | SOFT (short stature, onychodysplasia, facial dysmorphism, hypotrichosis) syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 3 | |
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 3 | |
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 4 | |
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Existential restriction modifier | ||
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | Is a | Short stature disorder | true | Inferred relationship | Existential restriction modifier | ||
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Existential restriction modifier | ||
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | Is a | Congenital anomaly of nail | true | Inferred relationship | Existential restriction modifier | ||
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 4 | |
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | Is a | Hereditary disorder of the integument | true | Inferred relationship | Existential restriction modifier | ||
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 3 | |
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 2 | |
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | Finding site | Hair structure | true | Inferred relationship | Existential restriction modifier | 4 | |
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | Finding site | Face structure | true | Inferred relationship | Existential restriction modifier | 3 | |
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | Finding site | Bone structure | true | Inferred relationship | Existential restriction modifier | 1 | |
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | Is a | Congenital hypotrichia | true | Inferred relationship | Existential restriction modifier | ||
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | Is a | Congenital skeletal dysplasia | true | Inferred relationship | Existential restriction modifier | ||
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | Finding site | Skin structure | false | Inferred relationship | Existential restriction modifier | ||
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 2 | |
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | Associated morphology | Hypoplasia | true | Inferred relationship | Existential restriction modifier | 4 | |
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | Associated morphology | Dysplasia | true | Inferred relationship | Existential restriction modifier | 1 | |
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | Associated morphology | Dysplasia | true | Inferred relationship | Existential restriction modifier | 2 | |
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | Is a | Congenital anomaly of skeletal bone | true | Inferred relationship | Existential restriction modifier | ||
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | Finding site | Nail unit structure | true | Inferred relationship | Existential restriction modifier | 2 | |
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | Is a | Disorder of nail | false | Inferred relationship | Existential restriction modifier | ||
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | Is a | Genetic disorder of nail | true | Inferred relationship | Existential restriction modifier | ||
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | Interprets | Height / growth measure | true | Inferred relationship | Existential restriction modifier | 5 | |
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome | Is a | Skin lesion | true | Inferred relationship | Existential restriction modifier |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets