Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3755539011 | Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3755540013 | Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3755541012 | Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3755542017 | A rare syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated. Caused by heterozygous mutation in the SETD5 gene on chromosome 3p25. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3755543010 | A rare syndromic intellectual disability characterised by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioural issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated. Caused by heterozygous mutation in the SETD5 gene on chromosome 3p25. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 11360001000172114 | syndrome de déficience intellectuelle et dysmorphie faciale par haploinsuffisance de SETD5 | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 5256371000172115 | syndroom van mentale retardatie en faciale dysmorfie door SETD5-haplo-insufficiëntie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 5256381000172117 | syndroom van verstandelijke handicap en congenitale afwijking van aangezicht door SETD5-haplo-insufficiëntie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 5256391000172119 | syndroom van verstandelijke beperking en faciale dysmorfie door 'SET-domain containing protein 5'-haplo-insufficiëntie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
| Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR