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 |
| 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 | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401827017 | This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401828010 | This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. | Is a | Insulin receptor defect | true | Inferred relationship | Some | ||
| This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. | Is a | Acanthosis nigricans (disorder) | true | Inferred relationship | Some | ||
| This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. | Finding site | Structure of integumentary system (body structure) | false | Inferred relationship | Some | ||
| This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. | Finding site | Structure of endocrine system (body structure) | false | Inferred relationship | Some | ||
| This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. | Has definitional manifestation | Abnormal keratinization | false | Inferred relationship | Some | ||
| This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. | Finding site | Structure of endocrine system (body structure) | false | Inferred relationship | Some | 1 | |
| This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. | Finding site | Structure of integumentary system (body structure) | false | Inferred relationship | Some | 2 | |
| This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. | Has interpretation | Abnormal | true | Inferred relationship | Some | 3 | |
| This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. | Interprets | Keratinization | true | Inferred relationship | Some | 3 | |
| This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. | Finding site | Structure of integumentary system (body structure) | true | Inferred relationship | Some | 1 | |
| This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. | Finding site | Structure of endocrine system (body structure) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR