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 |
7542571000172118 | deficiëntie van sterol-C4-methyloxidase | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
7542581000172115 | syndroom van microcefalie, congenitaal cataract en psoriasiforme dermatitis | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
7542591000172117 | SMO-deficiëntie | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | Is a | Microcephaly (finding) | true | Inferred relationship | Some | ||
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | Is a | Disorder of cholesterol synthesis | true | Inferred relationship | Some | ||
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | Is a | Inborn error of lipoprotein metabolism | true | Inferred relationship | Some | ||
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | Is a | Psoriasiform dermatitis | true | Inferred relationship | Some | ||
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | Is a | Congenital cataract | true | Inferred relationship | Some | ||
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | Interprets | Head circumference | true | Inferred relationship | Some | 4 | |
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | Has interpretation | Below reference range | true | Inferred relationship | Some | 4 | |
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | Finding site | Lens clear | true | Inferred relationship | Some | 1 | |
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | Associated morphology | Opacity | 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 | Finding site | Skin structure | true | Inferred relationship | Some | 2 | |
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | Associated morphology | Psoriasiform rash | true | Inferred relationship | Some | 2 | |
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | Finding site | Skin structure | true | Inferred relationship | Some | 3 | |
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome | Associated morphology | 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