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 |
| 4634867015 | Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4634868013 | Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5399360010 | A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by infantile onset of global developmental delay, severe intellectual disability, growth deficiency, microcephaly, strabismus, blue-gray sclerae, and extensive Mongolian spots. Some patients also present with epilepsy. Brain imaging may demonstrate variable abnormalities including cerebral atrophy, thin corpus callosum, ventriculomegaly, or arachnoid cysts. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399361014 | A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterised by infantile onset of global developmental delay, severe intellectual disability, growth deficiency, microcephaly, strabismus, blue-grey sclerae, and extensive Mongolian spots. Some patients also present with epilepsy. Brain imaging may demonstrate variable abnormalities including cerebral atrophy, thin corpus callosum, ventriculomegaly, or arachnoid cysts. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | Is a | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | Is a | Blue sclera (disorder) | true | Inferred relationship | Some | ||
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | Is a | Global developmental delay | true | Inferred relationship | Some | ||
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | Is a | Mongolian spot | true | Inferred relationship | Some | ||
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | Is a | Hyperpigmentation of skin | true | Inferred relationship | Some | ||
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | Is a | Genetic disorder of skin pigmentation (disorder) | true | Inferred relationship | Some | ||
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | Interprets | Birth head circumference | true | Inferred relationship | Some | 5 | |
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | Has interpretation | Below reference range | true | Inferred relationship | Some | 5 | |
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | Finding site | Head structure | true | Inferred relationship | Some | 1 | |
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 1 | |
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | Finding site | Scleral structure | true | Inferred relationship | Some | 3 | |
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | Finding site | Skin structure | true | Inferred relationship | Some | 4 | |
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | Associated morphology | Blue nevus | true | Inferred relationship | Some | 4 | |
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | Finding site | Skin structure | true | Inferred relationship | Some | 2 | |
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | Associated morphology | Hyperpigmentation | true | Inferred relationship | Some | 2 | |
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 6 | |
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 6 | |
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 7 | |
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 7 | |
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR