Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3702242017 | Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3702243010 | Microcephaly, thin corpus callosum, intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3702244016 | A rare genetic syndromic intellectual disability disease with characteristics of progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated. Caused by homozygous mutation in the TAF2 gene on chromosome 8q23. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) | Finding site | Brain structure | false | Inferred relationship | Some | 2 | |
| Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 2 | |
| Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) | Is a | Microcephalus | false | Inferred relationship | Some | ||
| Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) | Finding site | Corpus callosum structure | true | Inferred relationship | Some | 1 | |
| Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) | Is a | Congenital malformation of corpus callosum | true | Inferred relationship | Some | ||
| Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 2 | |
| Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) | Interprets | Head circumference | true | Inferred relationship | Some | 2 | |
| Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 2 | |
| Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) | Is a | Microcephaly (finding) | true | Inferred relationship | Some | ||
| Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 3 | |
| Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 4 | |
| Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR