OMOP Concept 37168487
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome
StandardConditionSNOMED1281843005Disorder
Maps from
0
Descendants
0
Valid from
31 May 2023
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome across source vocabularies.
- Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder)
- KMT2D-related choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome
- Lysine methyltransferase 2D-related choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome
- síndrome de atresia de coanas, atelia, hipotiroidismo, retraso puberal y baja estatura
- síndrome de atresia de coanas, atelia, hipotiroidismo, retraso puberal y baja estatura (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(88)Roll up to these when you need a wider cohort.
- 1Autosomal dominant hereditary disorder
- 1Choanal atresia
- 1Congenital abnormality of external ear
- 1Congenital abnormality of nipple
- 1Congenital anomaly of ear with impairment of hearing
- 1Congenital anomaly of the thyroid gland
- 1Decreased hearing
- 1Developmental hereditary disorder
- 1Developmental malformation of branchial arch
- 1Ear, face and neck congenital anomalies
- 1Hearing loss associated with syndrome
- 1Hereditary disorder of endocrine system
- 1Hereditary hearing loss
- 1Multiple system malformation syndrome
- 2Auditory system hereditary disorder
- 2Autosomal hereditary disorder
- 2Congenital anomaly of breast
- 2Congenital anomaly of endocrine gland
- 2Congenital anomaly of face
- 2Congenital anomaly of neck
- 2Congenital anomaly of upper respiratory system
- 2Congenital atresia of nares
- 2Congenital hearing disorder
- 2Congenital malformation
- 2Congenital malformation of ear
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