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Genetic transient congenital hypothyroidism
Disease definition
Genetic transient congenital hypothyroidism is a rare, thyroid disease characterized by a gene mutation induced, temporary deficiency of thyroid hormones at birth, which later reverts to normal with or without replacement therapy in the first few months or years of life.
ORPHA:226316
Classification level: Disorder- Synonym(s): -
- Prevalence: -
- Inheritance: -
- Age of onset: -
- ICD-10: P72.2
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Español (2018) Italiano (2018) Nederlands (2018) Polski ()
Detailed information
Guidelines
- Anesthesia guidelines
- Czech (2017) - Orphananesthesia
- English (2017) - Orphananesthesia
- Español (2017) - Orphananesthesia
Genetic Testing
- Guidance for genetic testing
- Français (2016, pdf) - ANPGM


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.