Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3728141015 | IQSEC2 (IQ motif and Sec7 domain 2) related syndromic intellectual disability | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3728142010 | Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3728143017 | IQSEC2-related syndromic intellectual disability | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3728144011 | Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6943231000146113 | IQSEC2-gerelateerde syndromale mentale retardatie | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7496141000146111 | syndroom van ernstige verstandelijke beperking, progressieve postnatale microcefalie en stereotiepe handbewegingen op middellijn (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7717431000146115 | syndroom van ernstige verstandelijke beperking, progressieve postnatale microcefalie en stereotiepe handbewegingen op middellijn | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7868911000146119 | syndroom van ernstige verstandelijke handicap, progressieve postnatale microcefalie en stereotiepe handbewegingen op middellijn | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3728145012 | A rare genetic syndromic intellectual disability disorder with characteristics of severe intellectual disability, non-inherited progressive post-natal microcephaly, hypotonia, hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (for example hand washing/rubbing). Additional features include developmental delay, seizures and behavioral disturbances, such as self-injury and unexplained crying episodes. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3728146013 | A rare genetic syndromic intellectual disability disorder with characteristics of severe intellectual disability, non-inherited progressive post-natal microcephaly, hypotonia, hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (for example hand washing/rubbing). Additional features include developmental delay, seizures and behavioural disturbances, such as self-injury and unexplained crying episodes. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) | Is a | Severe intellectual disability (disorder) | true | Inferred relationship | Some | ||
| Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) | Is a | Microcephaly (finding) | true | Inferred relationship | Some | ||
| Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) | Is a | Disorder of head (disorder) | true | Inferred relationship | Some | ||
| Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) | Is a | Chronic mental disorder | false | Inferred relationship | Some | ||
| Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 2 | |
| Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) | Finding site | Head structure | true | Inferred relationship | Some | 3 | |
| Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) | Interprets | Head circumference | true | Inferred relationship | Some | 4 | |
| Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 4 | |
| Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 5 | |
| Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 6 | |
| Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 6 | |
| Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) | Is a | Chronic disease | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR