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 |
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 |
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 | Only initial character case insensitive (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 | Only initial character 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 |
3304469014 | A very rare syndrome described in two siblings with manifestation of 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 |
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 |
3447821001000118 | Prominente Glabella - Mikrozephalie - Hypogenitalismus | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
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 |
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 | Existential restriction modifier (core metadata concept) | ||
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 | Existential restriction modifier (core metadata concept) | ||
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Is a | Disease of skull | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
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 | Existential restriction modifier (core metadata concept) | ||
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 | Existential restriction modifier (core metadata concept) | ||
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 | Existential restriction modifier (core metadata concept) | ||
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 (disorder) | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
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 (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
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 (body structure) | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
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 | Existential restriction modifier (core metadata concept) | 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 | Existential restriction modifier (core metadata concept) | 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 | Existential restriction modifier (core metadata concept) | 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 | Existential restriction modifier (core metadata concept) | 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 | Existential restriction modifier (core metadata concept) | 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 | Existential restriction modifier (core metadata concept) | 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 (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 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 (body structure) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 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 (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 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 | Existential restriction modifier (core metadata concept) | 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 | Existential restriction modifier (core metadata concept) | 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 | Existential restriction modifier (core metadata concept) | 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 (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 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 | Existential restriction modifier (core metadata concept) | 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 | Existential restriction modifier (core metadata concept) | ||
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 | Existential restriction modifier (core metadata concept) | ||
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 | Existential restriction modifier (core metadata concept) | 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 | Existential restriction modifier (core metadata concept) | 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 | Existential restriction modifier (core metadata concept) | ||
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 | Existential restriction modifier (core metadata concept) | ||
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 | Existential restriction modifier (core metadata concept) | 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 (body structure) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 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 | Existential restriction modifier (core metadata concept) | 4 | |
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. | Is a | Congenital microcephaly (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
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 | Existential restriction modifier (core metadata concept) | 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 | Existential restriction modifier (core metadata concept) | 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 | Existential restriction modifier (core metadata concept) |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)