Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2025. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5439638019 | Hereditary persistence of fetal hemoglobin, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5439639010 | Hereditary persistence of fetal hemoglobin, intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5439640012 | Hereditary persistence of fetal haemoglobin, intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5439641011 | Dias Logan syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5439654016 | Hereditary persistence of foetal haemoglobin, intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5439645019 | A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, moderate to severe intellectual disability, language delay and asymptomatic persistence of fetal hemoglobin. Joint laxity and microcephaly are commonly observed. Majority of the patients present with variable dysmorphic features (including strabismus, downslanting palpebral fissures, anteverted nose with small nares and full tip, external ear anomalies, thin upper lip and everted lower lip). Behavior problems including anxiety, recurrent hand flapping/biting and attention deficit can also be observed. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5439646018 | A rare multiple congenital anomalies/dysmorphic syndrome characterised by global developmental delay, moderate to severe intellectual disability, language delay and asymptomatic persistence of fetal haemoglobin. Joint laxity and microcephaly are commonly observed. Majority of the patients present with variable dysmorphic features (including strabismus, downslanting palpebral fissures, anteverted nose with small nares and full tip, external ear anomalies, thin upper lip and everted lower lip). Behaviour problems including anxiety, recurrent hand flapping/biting and attention deficit can also be observed. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hereditary persistence of fetal hemoglobin, intellectual disability syndrome (disorder) | Is a | Intellectual disability | false | Inferred relationship | Some | ||
| Hereditary persistence of fetal hemoglobin, intellectual disability syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Hereditary persistence of fetal hemoglobin, intellectual disability syndrome (disorder) | Is a | Hereditary persistence of fetal hemoglobin | true | Inferred relationship | Some | ||
| Hereditary persistence of fetal hemoglobin, intellectual disability syndrome (disorder) | Is a | Global developmental delay | true | Inferred relationship | Some | ||
| Hereditary persistence of fetal hemoglobin, intellectual disability syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Hereditary persistence of fetal hemoglobin, intellectual disability syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Hereditary persistence of fetal hemoglobin, intellectual disability syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 3 | |
| Hereditary persistence of fetal hemoglobin, intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| Hereditary persistence of fetal hemoglobin, intellectual disability syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 4 | |
| Hereditary persistence of fetal hemoglobin, intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| Hereditary persistence of fetal hemoglobin, intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Hereditary persistence of fetal hemoglobin, intellectual disability syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Hereditary persistence of fetal hemoglobin, intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Hereditary persistence of fetal hemoglobin, intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Hereditary persistence of fetal hemoglobin, intellectual disability syndrome (disorder) | Finding site | Erythrocyte | true | Inferred relationship | Some | 2 | |
| Hereditary persistence of fetal hemoglobin, intellectual disability syndrome (disorder) | Is a | Genetic intellectual disability | true | Inferred relationship | Some | ||
| Hereditary persistence of fetal hemoglobin, intellectual disability syndrome (disorder) | Is a | Neurodevelopmental delay (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR