OMOP Concept 4290064
Pendred's syndrome
StandardConditionSNOMED70348004Disorder
Maps from
4
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
4 source codes normalize to Pendred's syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 130620 | Goitre-deafness syndrome | Non-standard |
| MeSH | C536648 | Pendred syndrome | Non-standard |
| Nebraska Lexicon | 70348004 | Hypothyroidism with sensorineural deafness | Non-standard |
| Read | C030.00 | Pendred's syndrome | Non-standard |
Synonyms
Alternative names recorded for Pendred's syndrome across source vocabularies.
- defecto en la organificación de hormona tiroidea IIB
- defecto genético en la organificación de hormona tiroidea IIB
- GDTH IIB
- Genetic defect in thyroid hormonogenesis II B
- Goiter-deafness syndrome
- Goitre-deafness syndrome
- hipotiroidismo con sordera neurosensorial
- Hypothyroidism with sensorineural deafness
- Pendred's syndrome (disorder)
- Pendred syndrome
- síndrome de bocio y sordera
- síndrome de Pendred
- síndrome de Pendred (trastorno)
- Thyroid hormone organification defect II B
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(52)Roll up to these when you need a wider cohort.
- 1Auditory system hereditary disorder
- 1Autosomal recessive hereditary disorder
- 1Congenital anomaly of ear with impairment of hearing
- 1Congenital anomaly of vestibule of inner ear
- 1Congenital sensorineural hearing loss
- 1Developmental hereditary disorder
- 1Goiter
- 1Inherited disorder of thyroid metabolism
- 2Autosomal hereditary disorder
- 2Congenital hearing disorder
- 2Congenital malformation of ear
- 2Developmental disorder
- 2Disorder of auditory system
- 2Disorder of thyroid gland
- 2Hearing loss
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Hereditary disorder of endocrine system
- 2Inborn error of metabolism
- 2Sensorineural hearing loss
- 2Structural anomaly of the cochlea and vestibular labyrinth
- 2Viscus structure finding
- 3Clinical finding
- 3Congenital anomaly of head
- 3Congenital anomaly of inner ear
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