54036001: Oto-palato-digital syndrome, type I (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Oto-palato-digital syndrome, type I
• \Finding of head and neck region\Head finding\Finding of head region\Orofacial cleft\Cleft palate\Oto-palato-digital syndrome, type I
• \Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Oto-palato-digital syndrome, type I
• \Finding of head and neck region\Head finding\Finding of head region\Palate finding\Disorder of palate\Congenital anomaly of palate\Cleft palate\Oto-palato-digital syndrome, type I
• \Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Conductive hearing loss\Oto-palato-digital syndrome, type I
• \Finding of head and neck region\Head finding\Disorder of head\Disorder of palate\Congenital anomaly of palate\Cleft palate\Oto-palato-digital syndrome, type I
• \Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Congenital anomaly of face\Oto-palato-digital syndrome, type I
• \Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Oto-palato-digital syndrome, type I
• \Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Oto-palato-digital syndrome, type I
• \Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Oto-palato-digital syndrome, type I
• \Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Conductive hearing loss\Oto-palato-digital syndrome, type I
• \Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Conductive hearing loss\Oto-palato-digital syndrome, type I
• \Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Conductive hearing loss\Oto-palato-digital syndrome, type I
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Oto-palato-digital syndrome, type I
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Oto-palato-digital syndrome, type I
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Conductive hearing loss\Oto-palato-digital syndrome, type I
• \Ear and auditory finding\Disorder of auditory system\Disorder of ear\Conductive hearing loss\Oto-palato-digital syndrome, type I
• \Ear and auditory finding\Ear finding\Disorder of ear\Conductive hearing loss\Oto-palato-digital syndrome, type I
• \Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Oto-palato-digital syndrome, type I
• \Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Conductive hearing loss\Oto-palato-digital syndrome, type I
• \Functional finding\Hearing finding\Hearing disorder\...
• \Congenital hearing disorder\Oto-palato-digital syndrome, type I
• \Hearing loss\Conductive hearing loss\Oto-palato-digital syndrome, type I
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type I
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type I
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type I
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type I
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type I
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type I
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type I
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Oto-palato-digital syndrome, type I
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type I
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type I
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type I
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Oto-palato-digital syndrome, type I
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Oto-palato-digital syndrome, type I
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Oto-palato-digital syndrome, type I
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Conductive hearing loss\Oto-palato-digital syndrome, type I
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Conductive hearing loss\Oto-palato-digital syndrome, type I
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type I
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type I
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type I
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type I
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type I
• \Disease\Ear, nose and throat disorder\Disorder of ear\Conductive hearing loss\Oto-palato-digital syndrome, type I
• \Disease\Disorder of extremity\Congenital anomaly of limb\Oto-palato-digital syndrome, type I
• \Disease\Disorder of head\Disorder of palate\Congenital anomaly of palate\Cleft palate\Oto-palato-digital syndrome, type I
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Oto-palato-digital syndrome, type I
• \Disease\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Oto-palato-digital syndrome, type I
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Oto-palato-digital syndrome, type I
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Oto-palato-digital syndrome, type I
• \Disease\Disorder of head\Disorder of ear\Conductive hearing loss\Oto-palato-digital syndrome, type I
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Oto-palato-digital syndrome, type I
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Oto-palato-digital syndrome, type I
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Oto-palato-digital syndrome, type I
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type I
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type I
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Oto-palato-digital syndrome, type I
• \Disease\Congenital disease\Congenital hearing disorder\Oto-palato-digital syndrome, type I
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type I
• \Disease\Developmental disorder\Developmental hereditary disorder\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type I
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Oto-palato-digital syndrome, type I
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Oto-palato-digital syndrome, type I
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Oto-palato-digital syndrome, type I
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type I
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type I
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Oto-palato-digital syndrome, type I

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
792223014	Oto-palato-digital syndrome, type I (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
89817016	Oto-palato-digital syndrome, type I	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
89818014	Taybi syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3330758019	The mildest form of otopalatodigital syndrome spectrum disorder, characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation have a broad range of phenotypic expression.	en	Definition	Active	Case sensitive	SNOMED CT core
3330772011	The mildest form of otopalatodigital syndrome spectrum disorder, characterised by a generalised skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation have a broad range of phenotypic expression.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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