Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5401208015 | A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401209011 | A rare syndrome described and characterised by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3304466019 | Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3304467011 | Prominent glabella with microcephaly and hypogenitalism syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3304468018 | MacDermot Winter syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
879661000172115 | syndrome de MacDermot-Winter | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
987801000172110 | syndrome de glabelle proéminente-microcéphalie-petite taille | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3447821001000118 | Prominente Glabella - Mikrozephalie - Hypogenitalismus | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Is a | microcéphalie | false | Inferred relationship | Some | ||
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Is a | Disorder of skull (disorder) | false | Inferred relationship | Some | ||
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Is a | Gonadal dysgenesis | true | Inferred relationship | Some | ||
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Is a | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Finding site | Structure of glabella | false | Inferred relationship | Some | ||
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 3 | |
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Finding site | Brain structure | false | Inferred relationship | Some | 3 | |
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 4 | |
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Finding site | Gonadal structure | false | Inferred relationship | Some | 4 | |
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Finding site | Gonadal structure | true | Inferred relationship | Some | 1 | |
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Finding site | Structure of glabella | true | Inferred relationship | Some | 3 | |
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Finding site | Brain structure | false | Inferred relationship | Some | 2 | |
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 2 | |
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Is a | Disorder of face (disorder) | false | Inferred relationship | Some | ||
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Has interpretation | Below reference range | true | Inferred relationship | Some | 4 | |
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Is a | Congenital anomaly of frontal bone | true | Inferred relationship | Some | ||
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Is a | Congenital anomaly of face (disorder) | true | Inferred relationship | Some | ||
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Finding site | Head structure | true | Inferred relationship | Some | 2 | |
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Interprets | Birth head circumference | true | Inferred relationship | Some | 4 | |
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Is a | A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems. | true | Inferred relationship | Some | ||
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 3 | |
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Is a | Forehead finding | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)