Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3047540013 | Histiocytosis-lymphadenopathy plus syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3047541012 | Histiocytosis-lymphadenopathy plus syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3047542017 | SLC29A3 spectrum disorder | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3994446016 | H syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3994445017 | A rare cutaneous disease and a systemic inherited histiocytosis with main characteristics of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycaemia/diabetes mellitus. The syndrome becomes clinically apparent mostly during childhood, but cases during infancy and late-onset cases have been reported too. Caused by mutations in SLC29A3 (10q22.2) (encoding a nucleoside transporter, hENT3), which result in defective nucleoside transport functions of hENT3. This leads to histiocytic infiltration of numerous organs. Transmission is autosomal recessive. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3994447013 | A rare cutaneous disease and a systemic inherited histiocytosis with main characteristics of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. The syndrome becomes clinically apparent mostly during childhood, but cases during infancy and late-onset cases have been reported too. Caused by mutations in SLC29A3 (10q22.2) (encoding a nucleoside transporter, hENT3), which result in defective nucleoside transport functions of hENT3. This leads to histiocytic infiltration of numerous organs. Transmission is autosomal recessive. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5449906012 | A rare cutaneous disease and a systemic inherited histiocytosis mainly characterised by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycaemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5449907015 | A rare cutaneous disease and a systemic inherited histiocytosis mainly characterized by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Histiocytosis-lymphadenopathy plus syndrome (disorder) | Is a | Histiocytic syndrome | true | Inferred relationship | Some | ||
| Histiocytosis-lymphadenopathy plus syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Histiocytosis-lymphadenopathy plus syndrome (disorder) | Associated morphology | Histiocytic proliferation - category | false | Inferred relationship | Some | 1 | |
| Histiocytosis-lymphadenopathy plus syndrome (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Histiocytosis-lymphadenopathy plus syndrome (disorder) | Is a | Disorder of skin (disorder) | true | Inferred relationship | Some | ||
| Histiocytosis-lymphadenopathy plus syndrome (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 2 | |
| Histiocytosis-lymphadenopathy plus syndrome (disorder) | Associated morphology | Histiocytic proliferation (morphologic abnormality) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR