Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3451504012 | Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| 3451505013 | Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 3451506014 | Pfeiffer Palm Teller syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 3451507017 | PPT (Pfeiffer Palm Teller) syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome | Is a | Enamel hypoplasia | true | Inferred relationship | Existential restriction modifier | ||
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Existential restriction modifier | ||
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome | Is a | Mental retardation | false | Inferred relationship | Existential restriction modifier | ||
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome | Is a | Short stature disorder | true | Inferred relationship | Existential restriction modifier | ||
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome | Is a | Congenital abnormality of external ear | true | Inferred relationship | Existential restriction modifier | ||
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome | Is a | Auditory system hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome | Is a | Digestive system hereditary disorder | false | Inferred relationship | Existential restriction modifier | ||
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome | Is a | Congenital anomaly of tooth | false | Inferred relationship | Existential restriction modifier | ||
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 2 | |
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome | Finding site | External ear structure | true | Inferred relationship | Existential restriction modifier | 2 | |
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 3 | |
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome | Associated morphology | Hypoplasia | false | Inferred relationship | Existential restriction modifier | 2 | |
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome | Finding site | Enamel structure | false | Inferred relationship | Existential restriction modifier | 2 | |
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome | Associated morphology | Developmental anomaly | false | Inferred relationship | Existential restriction modifier | 3 | |
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome | Finding site | External ear structure | false | Inferred relationship | Existential restriction modifier | 3 | |
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome | Is a | Intellectual disability | true | Inferred relationship | Existential restriction modifier | ||
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome | Finding site | Enamel structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 2 | |
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 2 | |
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome | Associated morphology | Hypoplasia | true | Inferred relationship | Existential restriction modifier | 1 | |
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 3 | |
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 3 | |
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome | Finding site | Face structure | true | Inferred relationship | Existential restriction modifier | 3 | |
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome | Is a | Developmental hereditary disorder | false | Inferred relationship | Existential restriction modifier | ||
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome | Interprets | Height / growth measure | true | Inferred relationship | Existential restriction modifier | 4 | |
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome | Is a | Amelogenesis imperfecta | true | Inferred relationship | Existential restriction modifier | ||
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome | Interprets | Intellectual ability | true | Inferred relationship | Existential restriction modifier | 5 | |
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 5 | |
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier | 6 | |
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice 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