Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3424253010 | Hypotrichosis and intellectual disability syndrome Lopes type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3424254016 | Hypotrichosis and intellectual disability syndrome Lopes type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3424255015 | Lopes Marques de Faria syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3424256019 | Syndrome with characteristics of hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) | Is a | Congenital hypotrichia | true | Inferred relationship | Some | ||
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) | Is a | Syndactyly (disorder) | true | Inferred relationship | Some | ||
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | ||
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) | Associated morphology | Congenital abnormal fusion | false | Inferred relationship | Some | 3 | |
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) | Finding site | Digit structure | false | Inferred relationship | Some | 3 | |
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) | Associated morphology | Congenital hypoplasia | false | Inferred relationship | Some | 4 | |
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) | Finding site | Hair structure (body structure) | false | Inferred relationship | Some | 4 | |
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) | Associated morphology | Congenital abnormal fusion | false | Inferred relationship | Some | 2 | |
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 1 | |
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) | Finding site | Digit structure | true | Inferred relationship | Some | 2 | |
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 1 | |
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 3 | |
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 4 | |
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) | Associated morphology | Abnormally fused structure (morphologic abnormality) | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets