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 |
| 3452276014 | X-linked intellectual disability Nascimento type (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3452277017 | X-linked intellectual disability Nascimento type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3452278010 | X-linked intellectual disability, nail dystrophy, seizures syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3452279019 | A rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures. Caused by mutation in the UBE2A gene on chromosome Xq24. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3452280016 | A rare X-linked intellectual disability syndrome characterised by intellectual disability (with severe speech impairment), a myxoedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures. Caused by mutation in the UBE2A gene on chromosome Xq24. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 959941000172118 | syndrome de déficience intellectuelle liée à l'X, dystrophie des ongles, épilepsie | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 1018751000172112 | déficience intellectuelle liée à l'X type Nascimento | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 876701000172117 | X-gebonden intellectuele achterstand, nageldystrofie, epileptische aanvallen-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
| 884991000172112 | intellectuele achterstand, X-gebonden, Nascimento-type | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked intellectual disability Nascimento type (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| X-linked intellectual disability Nascimento type (disorder) | Is a | retard mental | false | Inferred relationship | Some | ||
| X-linked intellectual disability Nascimento type (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked intellectual disability Nascimento type (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 1 | |
| X-linked intellectual disability Nascimento type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability Nascimento type (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability Nascimento type (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| X-linked intellectual disability Nascimento type (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability Nascimento type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability Nascimento type (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| X-linked intellectual disability Nascimento type (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| X-linked intellectual disability Nascimento type (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
| X-linked intellectual disability Nascimento type (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| X-linked intellectual disability Nascimento type (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| X-linked intellectual disability Nascimento type (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR