Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3737288015 | Atypical hypotonia cystinuria syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3737289011 | Atypical hypotonia cystinuria syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6797081000146111 | atypisch syndroom van hypotonie en cystinurie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6797091000146113 | atypisch syndroom van hypotonie en cystinurie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6906991000146116 | atypische HCS | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3737293017 | A form of hypotonia-cystinuria type 1 syndrome with characteristics of mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation and minor facial dysmorphism). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3777443013 | A form of hypotonia-cystinuria type 1 syndrome with characteristics of mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalized hypotonia, poor feeding, growth retardation and minor facial dysmorphism). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Atypical hypotonia cystinuria syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Atypical hypotonia cystinuria syndrome (disorder) | Interprets | Muscle tone | true | Inferred relationship | Some | 3 | |
| Atypical hypotonia cystinuria syndrome (disorder) | Is a | Cystinuria, type 1 | true | Inferred relationship | Some | ||
| Atypical hypotonia cystinuria syndrome (disorder) | Finding site | Kidney structure | true | Inferred relationship | Some | 2 | |
| Atypical hypotonia cystinuria syndrome (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Atypical hypotonia cystinuria syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Atypical hypotonia cystinuria syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Atypical hypotonia cystinuria syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 5 | |
| Atypical hypotonia cystinuria syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| Atypical hypotonia cystinuria syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 6 | |
| Atypical hypotonia cystinuria syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 6 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR