Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Mar 2022. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4970756012 | Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 4970757015 | ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 4970758013 | Martsolf-like syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 4970759017 | Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement | Is a | Microcephaly | true | Inferred relationship | Existential restriction modifier | ||
| Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Existential restriction modifier | ||
| Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement | Is a | Chronic metabolic disorder | true | Inferred relationship | Existential restriction modifier | ||
| Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement | Is a | Seizure disorder | true | Inferred relationship | Existential restriction modifier | ||
| Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement | Is a | Global developmental delay | true | Inferred relationship | Existential restriction modifier | ||
| Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement | Is a | Disorder of purine metabolism | true | Inferred relationship | Existential restriction modifier | ||
| Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement | Is a | Chronic brain syndrome | true | Inferred relationship | Existential restriction modifier | ||
| Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement | Clinical course | Progressive | true | Inferred relationship | Existential restriction modifier | 3 | |
| Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 2 | |
| Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement | Finding site | Brain structure | true | Inferred relationship | Existential restriction modifier | 4 | |
| Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 5 | |
| Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement | Interprets | Head circumference | true | Inferred relationship | Existential restriction modifier | 1 | |
| Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement | Has interpretation | Below reference range | true | Inferred relationship | Existential restriction modifier | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR