Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2021. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
4650468015 | Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4650469011 | Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4650467013 | A rare pervasive developmental disorder with characteristics of microcephaly, profound developmental delay, intellectual disability, bilateral cataracts, severe epilepsy including infantile spasms, hypotonia, irritability, feeding difficulties leading to failure to thrive and stereotypic hand movements. The disease manifests in infancy. Brain imaging reveals delay in myelination and cerebral atrophy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | Is a | Microcephaly (finding) | true | Inferred relationship | Some | ||
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | Is a | Eating, feeding and drinking abilities - finding | true | Inferred relationship | Some | ||
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | Is a | Feeding problem | true | Inferred relationship | Some | ||
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | Is a | Genetic disease | true | Inferred relationship | Some | ||
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | Is a | Epilepsy | true | Inferred relationship | Some | ||
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | Is a | Bilateral cataracts | true | Inferred relationship | Some | ||
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | Finding site | Cerebrum | true | Inferred relationship | Some | 5 | |
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 6 | |
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | Interprets | Head circumference | true | Inferred relationship | Some | 3 | |
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | Has interpretation | Below reference range | true | Inferred relationship | Some | 3 | |
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | Interprets | Feeding ability (observable entity) | true | Inferred relationship | Some | 4 | |
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | Has interpretation | Difficulty | true | Inferred relationship | Some | 4 | |
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | Finding site | Structure of lens of right eye | true | Inferred relationship | Some | 1 | |
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | Associated morphology | Opacity | true | Inferred relationship | Some | 1 | |
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | Finding site | Structure of lens of left eye | true | Inferred relationship | Some | 2 | |
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | Associated morphology | Opacity | true | Inferred relationship | Some | 2 | |
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 7 | |
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | Has interpretation | Impaired | true | Inferred relationship | Some | 7 | |
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 8 | |
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | Has interpretation | Impaired | true | Inferred relationship | Some | 8 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets