Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3321971014 | Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3321972019 | Contracture with ectodermal dysplasia and orofacial cleft syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3321973012 | Ladda Zonana Ramer syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3321974018 | An ectodermal dysplasia syndrome with characteristics of severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia. | en | Definition | Active | Case sensitive | SNOMED CT core |
3777385013 | An ectodermal dysplasia syndrome with characteristics of severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple naevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 5 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 6 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Is a | Inherited arthrogryposis | true | Inferred relationship | Some | ||
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 5 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 6 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Finding site | Ectoderm structure | true | Inferred relationship | Some | 1 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Associated morphology | Contracture | true | Inferred relationship | Some | 3 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Finding site | Structure of internal part of mouth | false | Inferred relationship | Some | 2 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 3 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Finding site | Ectoderm structure | false | Inferred relationship | Some | 3 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Associated morphology | Contracture | false | Inferred relationship | Some | 1 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Finding site | Joint structure | false | Inferred relationship | Some | 1 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Has interpretation | Decreased | true | Inferred relationship | Some | 7 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Finding site | Structure of joint region | true | Inferred relationship | Some | 3 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Interprets | Range of joint movement | true | Inferred relationship | Some | 7 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Finding site | Hair structure | true | Inferred relationship | Some | 5 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Finding site | Tooth structure | true | Inferred relationship | Some | 2 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 8 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Associated morphology | Developmental failure of fusion | true | Inferred relationship | Some | 8 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Finding site | Bone structure of head | true | Inferred relationship | Some | 8 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Is a | Congenital abnormality of skull and face bones | true | Inferred relationship | Some | ||
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Is a | Hereditary disorder of tooth | true | Inferred relationship | Some | ||
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Interprets | Intellectual ability | true | Inferred relationship | Some | 9 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 9 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 10 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 10 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Finding site | Skin structure | false | Inferred relationship | Some | 5 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 6 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Finding site | Structure of internal part of mouth | false | Inferred relationship | Some | 6 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 7 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Finding site | Face structure | false | Inferred relationship | Some | 7 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Associated morphology | Contracture | false | Inferred relationship | Some | 9 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Finding site | Joint structure | false | Inferred relationship | Some | 9 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Is a | Intellectual disability | false | Inferred relationship | Some | ||
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Is a | Arthrogryposis | false | Inferred relationship | Some | ||
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Is a | Ectodermal dysplasia with hair-tooth defects | true | Inferred relationship | Some | ||
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Is a | Digestive system hereditary disorder | false | Inferred relationship | Some | ||
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Is a | Orofacial cleft | true | Inferred relationship | Some | ||
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 6 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 8 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 8 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 9 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Finding site | Skin structure | false | Inferred relationship | Some | 8 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Finding site | Face structure | true | Inferred relationship | Some | 6 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 5 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Finding site | Ectoderm structure | false | Inferred relationship | Some | 5 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Is a | Congenital abnormality of oral cavity | false | Inferred relationship | Some | ||
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Finding site | Structure of subregion of head | true | Inferred relationship | Some | 4 | |
Contracture with ectodermal dysplasia and orofacial cleft syndrome | Associated morphology | Developmental failure of fusion | true | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Queensland allied health clinical finding reference set
Queensland allied health indicator for intervention reference set
Clinical finding foundation reference set
Musculoskeletal finding reference set
Problem/Diagnosis reference set
Description inactivation indicator reference set