Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5403801012 | A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403802017 | A rare intellectual disability syndrome characterised by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3499507014 | Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3499508016 | Microcephalus, glomerulonephritis, marfanoid habitus syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
949311000172118 | syndrome de Houlston-Iraggori-Murday | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3434081001000118 | Mikrozephalie - Glomerulonephritis - marfanoider Habitus | 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 intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Is a | microcéphalie | false | Inferred relationship | Some | ||
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Is a | Congenital anomaly of brain | false | Inferred relationship | Some | ||
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Is a | retard mental | false | Inferred relationship | Some | ||
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Is a | Marfanoid physique | true | Inferred relationship | Some | ||
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Is a | Congenital nephritis | true | Inferred relationship | Some | ||
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Is a | Hereditary nephritis (disorder) | true | Inferred relationship | Some | ||
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Interprets | Physique type | true | Inferred relationship | Some | 3 | |
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Associated morphology | inflammation chronique | false | Inferred relationship | Some | 4 | |
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Finding site | Glomerulus structure | false | Inferred relationship | Some | 4 | |
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 5 | |
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Finding site | Brain structure | false | Inferred relationship | Some | 5 | |
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Is a | Intellectual disability | false | Inferred relationship | Some | ||
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Finding site | Glomerulus structure | true | Inferred relationship | Some | 2 | |
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 1 | |
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Associated morphology | inflammation chronique | false | Inferred relationship | Some | 2 | |
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Is a | Congenital anomaly of the kidney (disorder) | true | Inferred relationship | Some | ||
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Finding site | Brain structure | false | Inferred relationship | Some | 1 | |
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Finding site | Head structure | true | Inferred relationship | Some | 1 | |
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Has interpretation | Below reference range | true | Inferred relationship | Some | 4 | |
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Interprets | Birth head circumference | true | Inferred relationship | Some | 4 | |
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | 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 intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Interprets | Intellectual ability | true | Inferred relationship | Some | 5 | |
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 6 | |
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Has interpretation | Impaired | true | Inferred relationship | Some | 6 | |
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Associated morphology | Chronic inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. | Is a | Genetic intellectual disability | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)