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 |
| 3644018011 | A multiple congenital anomalies syndrome characterised by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behaviour, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhoea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies. The disease is caused by heterozygous mutation in the NFIX gene on chromosome 19p13. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3644019015 | A multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies. The disease is caused by heterozygous mutation in the NFIX gene on chromosome 19p13. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404208016 | A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404209012 | A rare multisystemic genetic disorder characterised by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioural problems including anxieties and aggressiveness. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3644015014 | Malan overgrowth syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3644016010 | Sotos syndrome 2 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3644017018 | Malan overgrowth syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness. | Is a | makrocefali | false | Inferred relationship | Some | ||
| A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness. | Is a | Hereditary disease | false | Inferred relationship | Some | ||
| A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness. | Is a | Multiple malformation syndrome with early overgrowth | true | Inferred relationship | Some | ||
| A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness. | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness. | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness. | Associated morphology | dysgenese | false | Inferred relationship | Some | 2 | |
| A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness. | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
| A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness. | Associated morphology | kongenit forstørrelse | false | Inferred relationship | Some | 1 | |
| A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness. | Finding site | Entire head (body structure) | false | Inferred relationship | Some | 1 | |
| A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
| A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness. | Associated morphology | Enlargement (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness. | Finding site | Head structure | true | Inferred relationship | Some | 1 | |
| A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness. | Has interpretation | Above reference range (qualifier value) | true | Inferred relationship | Some | 3 | |
| A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness. | Is a | Congenital macrocephaly (disorder) | true | Inferred relationship | Some | ||
| A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness. | Interprets | Head circumference | true | Inferred relationship | Some | 3 | |
| A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness. | Interprets | Intellectual ability | true | Inferred relationship | Some | 4 | |
| A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness. | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness. | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 5 | |
| A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness. | Has interpretation | Impaired | true | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR