ORPHA:177107
Syndromic hypothyroidism
- 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 | Syndromic hypothyroidism | |
| fr | Hypothyroïdie syndromique | |
| de | Hypothyreose, syndromale | |
| es | Hipotiroidismo sindrómico | |
| it | Ipotiroidismo sindromico | |
| nl | Syndromale hypothyreoïdie | |
| pt | Hipotiroidismo sindromático | |
| pl | Syndromiczna niedoczynność przytarczyc | |
| cs | Syndromická hypotyreóza | |
| uk | Синдромний гіпотиреоз | |
| zh | 综合征性甲状腺功能减退症 | |
| tr | Sendromik hipotiroidi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15778 | E | validated | |
| UMLS | C5680512 | 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:226292Permanent congenital hypothyroidism
rare genetic diseases; rare endocrine diseases
Children (13):
- ORPHA:1226Bamforth-Lazarus syndrome
- ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS type
- ORPHA:597746Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
- ORPHA:209905Brain-lung-thyroid syndrome
- ORPHA:589856Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
- ORPHA:1882Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
- ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic disease
- ORPHA:2315Johanson-Blizzard syndrome
- ORPHA:2321Jung syndrome
- ORPHA:2349Muscular pseudohypertrophy-hypothyroidism syndrome
- ORPHA:88643Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
- ORPHA:705Pendred syndrome
- ORPHA:453533Polyendocrine-polyneuropathy syndrome
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/177107
- This record as JSON: /data/d/177107.json