Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3643283010 | CHACS - curly hair, acral keratoderma, caries syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3643284016 | Curly hair, acral keratoderma, caries syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3643285015 | Curly hair, acral keratoderma, caries syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3643288018 | An extremely rare ectodermal dysplasia syndrome with characteristics of premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Curly hair, acral keratoderma, caries syndrome (disorder) | Is a | Ectodermal dysplasia with hair-tooth-nail-sweating defect | true | Inferred relationship | Some | ||
| Curly hair, acral keratoderma, caries syndrome (disorder) | Is a | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
| Curly hair, acral keratoderma, caries syndrome (disorder) | Is a | Hereditary diffuse palmoplantar keratoderma (disorder) | true | Inferred relationship | Some | ||
| Curly hair, acral keratoderma, caries syndrome (disorder) | Has interpretation | Abnormal | false | Inferred relationship | Some | 4 | |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Interprets | Keratinization | false | Inferred relationship | Some | 4 | |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 3 | |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 2 | |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 2 | |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Associated morphology | Hyperkeratosis | false | Inferred relationship | Some | 3 | |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Finding site | Ectoderm structure | true | Inferred relationship | Some | 1 | |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 2 | |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Is a | Autosomal dominant ichthyosis (disorder) | false | Inferred relationship | Some | ||
| Curly hair, acral keratoderma, caries syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Is a | Genetic disorder of nail (disorder) | true | Inferred relationship | Some | ||
| Curly hair, acral keratoderma, caries syndrome (disorder) | Interprets | Sweating, function (observable entity) | true | Inferred relationship | Some | 6 | |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 8 | |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Finding site | Skin structure of palmar area of hand | false | Inferred relationship | Some | 8 | |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Finding site | Nail unit structure | true | Inferred relationship | Some | 4 | |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Finding site | Skin structure of sole of foot (body structure) | false | Inferred relationship | Some | 7 | |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Has interpretation | Abnormal | true | Inferred relationship | Some | 6 | |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 7 | |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Finding site | Tooth structure | true | Inferred relationship | Some | 3 | |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Is a | Digestive system hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Curly hair, acral keratoderma, caries syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 5 | |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Finding site | Entire skin | true | Inferred relationship | Some | 2 | |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 5 | |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Is a | Ichthyosis | true | Inferred relationship | Some | ||
| Curly hair, acral keratoderma, caries syndrome (disorder) | Finding site | Entire skin of palmar area of hand | true | Inferred relationship | Some | 7 | |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Finding site | Entire skin of sole of foot | true | Inferred relationship | Some | 8 | |
| Curly hair, acral keratoderma, caries syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Curly hair, acral keratoderma, caries syndrome (disorder) | Is a | Hereditary disorder of tooth | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Description inactivation indicator reference set
FHIR