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 |
| 3724053013 | Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3724054019 | Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6943211000146118 | syndroom van ernstige mentale retardatie, taalachterstand, strabisme, grimasseren en lange vingers | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7717771000146112 | syndroom van ernstige verstandelijke beperking, taalachterstand, strabisme, grimasseren en lange vingers | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 12045771000146112 | syndroom van ernstige verstandelijke beperking, taalachterstand, strabismus, grimasseren en lange vingers | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 12045781000146114 | syndroom van ernstige verstandelijke beperking, taalachterstand, strabismus, grimasseren en lange vingers (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 12045791000146111 | syndroom van ernstige verstandelijke handicap, taalachterstand, scheelzien, grimasseren en lange vingers | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3724055018 | A rare genetic syndromic intellectual disability disorder with characteristics of global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia) and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth. Caused by heterozygous mutation in the GATAD2B gene on chromosome 1q21. | 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, poor language, strabismus, grimacing face, long fingers syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
| Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (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