Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
4635206014 | Sterol-C4-methyl oxidase deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
4635208010 | SMO (sterol-C4-methyl oxidase) deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4635211011 | Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4635212016 | Microcephaly, congenital cataract, psoriasiform dermatitis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
4635209019 | A rare sterol biosynthesis disorder characterised by microcephaly, bilateral congenital cataract, mild developmental delay, growth delay with short stature, psoriasiform dermatitis of variable severity and immune dysregulation. Behavioural disorder, joint contractures and arthralgia have also been described. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4635210012 | A rare sterol biosynthesis disorder characterized by microcephaly, bilateral congenital cataract, mild developmental delay, growth delay with short stature, psoriasiform dermatitis of variable severity and immune dysregulation. Behavioral disorder, joint contractures and arthralgia have also been described. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | est un(e) (attribut) | Microcephaly (finding) | true | Inferred relationship | Some | ||
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | est un(e) (attribut) | Disorder of cholesterol synthesis | true | Inferred relationship | Some | ||
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | est un(e) (attribut) | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | est un(e) (attribut) | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | est un(e) (attribut) | Inborn error of lipoprotein metabolism | true | Inferred relationship | Some | ||
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | est un(e) (attribut) | Psoriasiform dermatitis (disorder) | true | Inferred relationship | Some | ||
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | est un(e) (attribut) | Congenital cataract | true | Inferred relationship | Some | ||
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | interprète (attribut) | Head circumference | true | Inferred relationship | Some | 4 | |
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 4 | |
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | localisation d'une constatation (attribut) | cristallin | true | Inferred relationship | Some | 1 | |
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | morphologie associée (attribut) | opacité | true | Inferred relationship | Some | 1 | |
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | localisation d'une constatation (attribut) | structure de la peau | true | Inferred relationship | Some | 2 | |
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | morphologie associée (attribut) | Psoriasiform rash | true | Inferred relationship | Some | 2 | |
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | localisation d'une constatation (attribut) | structure de la peau | true | Inferred relationship | Some | 3 | |
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | morphologie associée (attribut) | Inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets