Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3313311016 | Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3313312011 | Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3313313018 | This syndrome has characteristics of the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. At least five cases have been described in the literature so far. Enlargement of the kidneys was also reported in some cases. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) | Is a | Insulin receptor defect | true | Inferred relationship | Some | ||
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) | Is a | Acanthosis nigricans (disorder) | true | Inferred relationship | Some | ||
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) | Finding site | Structure of integumentary system (body structure) | false | Inferred relationship | Some | ||
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) | Finding site | Structure of endocrine system (body structure) | false | Inferred relationship | Some | ||
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) | Has definitional manifestation | Abnormal keratinization | false | Inferred relationship | Some | ||
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) | Finding site | Structure of endocrine system (body structure) | false | Inferred relationship | Some | 1 | |
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) | Finding site | Structure of integumentary system (body structure) | false | Inferred relationship | Some | 2 | |
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) | Has interpretation | Abnormal | true | Inferred relationship | Some | 3 | |
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) | Interprets | Keratinization | true | Inferred relationship | Some | 3 | |
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) | Finding site | Structure of integumentary system (body structure) | true | Inferred relationship | Some | 1 | |
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) | Finding site | Structure of endocrine system (body structure) | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets