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 |
| 4634871017 | A rare multiple congenital anomalies with intellectual disability syndrome with characteristics of 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 |
| 4634872012 | A rare multiple congenital anomalies with intellectual disability syndrome with characteristics of 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | est un(e) (attribut) | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | est un(e) (attribut) | Abnormal blue sclerae | true | Inferred relationship | Some | ||
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | est un(e) (attribut) | Global developmental delay | true | Inferred relationship | Some | ||
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | est un(e) (attribut) | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | est un(e) (attribut) | nævus en tache de vin (trouble) | true | Inferred relationship | Some | ||
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | est un(e) (attribut) | hyperpigmentation de la peau | true | Inferred relationship | Some | ||
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | est un(e) (attribut) | Genetic disorder of skin pigmentation (disorder) | true | Inferred relationship | Some | ||
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | interprète (attribut) | Birth head circumference | true | Inferred relationship | Some | 5 | |
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 5 | |
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | localisation d'une constatation (attribut) | structure de la tête | true | Inferred relationship | Some | 1 | |
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | morphologie associée (attribut) | Congenital smallness | true | 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 | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | localisation d'une constatation (attribut) | sclère (structure corporelle) | true | Inferred relationship | Some | 3 | |
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | morphologie associée (attribut) | structure anormale sur le plan morphologique | 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 | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | localisation d'une constatation (attribut) | structure de la peau | true | Inferred relationship | Some | 4 | |
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | morphologie associée (attribut) | Blue nevus | true | Inferred relationship | Some | 4 | |
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | localisation d'une constatation (attribut) | structure de la peau | true | Inferred relationship | Some | 2 | |
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome | morphologie associée (attribut) | Hyperpigmentation (morphologic abnormality) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR