ORPHA:102369
Rare syndromic intellectual disability
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rare syndromic intellectual disability | |
| fr | Déficience intellectuelle syndromique rare | |
| de | Seltene syndromale Intelligenzminderung | |
| es | Discapacidad intelectual rara sindrómica | |
| it | Disabilità intellettiva sindromica rara | |
| nl | Zeldzame syndromale intellectuele achterstand | |
| pt | Perturbação do desenvolvimento intelectual sindromática rara | |
| pl | Rzadka niepełnosprawność intelektualna z wadą rozwojową | Syndromiczna niepełnosprawność intelektualna · Syndromiczna niepełnosprawność umysłowa |
| cs | Vzácné syndromické mentální retardace | |
| uk | Рідкісна синдромна розумова відсталість | |
| zh | 罕见综合征性智力障碍 | |
| tr | Nadir sendromik zihinsel yetersizlik |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15162 | E | validated | |
| UMLS | C5681780 | E | validated | |
| GARD | 19834 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:87277Rare intellectual disability
rare neurological diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:2156OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome referred to · inactive
- ORPHA:2580OBSOLETE: Shoulder and girdle defects-familial intellectual disability syndrome referred to · inactive
- ORPHA:2861OBSOLETE: Short stature-microcephaly-heart defect syndrome referred to · inactive
- ORPHA:3043OBSOLETE: Intellectual disability-unusual facies syndrome referred to · inactive
- ORPHA:3046OBSOLETE: Intellectual disability-unusual facies, Davis-Lafer type referred to · inactive
- ORPHA:3050OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation syndrome referred to · inactive
- ORPHA:3064OBSOLETE: X-linked intellectual disability, Wittner type referred to · inactive
- ORPHA:3360OBSOLETE: Trichodermal syndrome-intellectual disability syndrome referred to · inactive
- ORPHA:85318OBSOLETE: X-linked intellectual disability-precocious puberty-obesity syndrome referred to · inactive
- ORPHA:98464OBSOLETE: X-linked syndromic intellectual disability referred to · inactive
- ORPHA:182073OBSOLETE: Syndromic neurometabolic disease with non-X-linked intellectual disability referred to · inactive
- ORPHA:182076OBSOLETE: Syndromic neurometabolic disease with X-linked intellectual disability referred to · inactive
- ORPHA:371054OBSOLETE: X-linked congenital disorder of glycosylation with intellectual disability as a major feature referred to · inactive
- ORPHA:371064OBSOLETE: Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature referred to · inactive
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/102369
- This record as JSON: /data/d/102369.json