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 |
3489209014 | SCARF (skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality) syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
3489210016 | SCARF syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
3489211017 | Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
3489213019 | Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Is a | Ambiguous genitalia | true | Inferred relationship | Existential restriction modifier | ||
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Is a | Metabolic bone disease | false | Inferred relationship | Existential restriction modifier | ||
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Is a | Craniosynostosis syndrome | true | Inferred relationship | Existential restriction modifier | ||
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Existential restriction modifier | ||
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Is a | Mental retardation | false | Inferred relationship | Existential restriction modifier | ||
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Is a | X-linked hereditary disease | false | Inferred relationship | Existential restriction modifier | ||
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Is a | Connective tissue hereditary disorder | false | Inferred relationship | Existential restriction modifier | ||
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Is a | Hereditary disorder of the integument | false | Inferred relationship | Existential restriction modifier | ||
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Existential restriction modifier | ||
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Is a | Congenital/hereditary cutis laxa | false | Inferred relationship | Existential restriction modifier | ||
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Finding site | Bone structure of cranium | false | Inferred relationship | Existential restriction modifier | ||
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 5 | |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 6 | |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Associated morphology | Developmental anomaly | false | Inferred relationship | Existential restriction modifier | 7 | |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 7 | |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 8 | |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Associated morphology | Developmental anomaly | false | Inferred relationship | Existential restriction modifier | 5 | |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Associated morphology | Congenital premature fusion | false | Inferred relationship | Existential restriction modifier | 6 | |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Finding site | Joint structure of suture of skull | false | Inferred relationship | Existential restriction modifier | 6 | |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Finding site | Face structure | false | Inferred relationship | Existential restriction modifier | 5 | |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Finding site | External genitalia structure | false | Inferred relationship | Existential restriction modifier | 7 | |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Finding site | Skin structure | false | Inferred relationship | Existential restriction modifier | 8 | |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Is a | Intellectual disability | true | Inferred relationship | Existential restriction modifier | ||
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 2 | |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 3 | |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 2 | |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 2 | |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 3 | |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Finding site | External genitalia structure | true | Inferred relationship | Existential restriction modifier | 2 | |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 4 | |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 4 | |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 3 | |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Finding site | Skin structure | true | Inferred relationship | Existential restriction modifier | 1 | |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Finding site | Face structure | true | Inferred relationship | Existential restriction modifier | 3 | |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Associated morphology | Congenital premature fusion | true | Inferred relationship | Existential restriction modifier | 4 | |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Finding site | Joint structure of suture of skull | true | Inferred relationship | Existential restriction modifier | 4 | |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Finding site | Connective tissue structure | false | Inferred relationship | Existential restriction modifier | ||
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Is a | Musculoskeletal and connective tissue disorder | true | Inferred relationship | Existential restriction modifier | ||
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Finding site | Connective tissue structure | true | Inferred relationship | Existential restriction modifier | 5 | |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Is a | Inherited cutis laxa | true | Inferred relationship | Existential restriction modifier | ||
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 5 | |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Existential restriction modifier | ||
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Interprets | Intellectual ability | true | Inferred relationship | Existential restriction modifier | 6 | |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 6 | |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier | 7 | |
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality 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