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 | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | est un(e) (attribut) | Microcephaly (finding) | true | Inferred relationship | Some | ||
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | est un(e) (attribut) | Eating, feeding and drinking abilities - finding | true | Inferred relationship | Some | ||
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | est un(e) (attribut) | Feeding problem | true | Inferred relationship | Some | ||
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | est un(e) (attribut) | Genetic disease | true | Inferred relationship | Some | ||
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | est un(e) (attribut) | Epilepsy | true | Inferred relationship | Some | ||
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | est un(e) (attribut) | Bilateral cataracts | true | Inferred relationship | Some | ||
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | localisation d'une constatation (attribut) | structure du cerveau | 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 | interprète (attribut) | Head circumference | true | Inferred relationship | Some | 3 | |
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 3 | |
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | interprète (attribut) | Feeding ability | true | Inferred relationship | Some | 4 | |
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | a pour interprétation (attribut) | capable avec difficulté (valeur de l'attribut) | true | Inferred relationship | Some | 4 | |
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | localisation d'une constatation (attribut) | Structure of lens of right eye | true | Inferred relationship | Some | 1 | |
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | morphologie associée (attribut) | opacité | true | Inferred relationship | Some | 1 | |
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | localisation d'une constatation (attribut) | Structure of lens of left eye | true | Inferred relationship | Some | 2 | |
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract | morphologie associée (attribut) | opacité | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets