42432003: Oto-palato-digital syndrome, type II (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Orofacial cleft (disorder)\Cleft palate\Oto-palato-digital syndrome, type II
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Oto-palato-digital syndrome, type II
• \Head finding (finding)\Finding of head region\Palate finding\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Oto-palato-digital syndrome, type II
• \Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Oto-palato-digital syndrome, type II
• \Head finding (finding)\Disorder of head (disorder)\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Oto-palato-digital syndrome, type II
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Oto-palato-digital syndrome, type II
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Oto-palato-digital syndrome, type II
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Oto-palato-digital syndrome, type II
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Oto-palato-digital syndrome, type II
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Oto-palato-digital syndrome, type II
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Oto-palato-digital syndrome, type II
• \Ear, nose and throat finding\Ear finding\Disorder of ear\Oto-palato-digital syndrome, type II
• \Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Oto-palato-digital syndrome, type II
• \Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Oto-palato-digital syndrome, type II
• \Ear and auditory finding (finding)\Disorder of auditory system\Disorder of ear\Oto-palato-digital syndrome, type II
• \Ear and auditory finding (finding)\Ear finding\Disorder of ear\Oto-palato-digital syndrome, type II
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Lesion of bone\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Lesion of bone\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Skeletal dysplasia\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Lesion of bone\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Oto-palato-digital syndrome, type II
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Oto-palato-digital syndrome, type II
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Oto-palato-digital syndrome, type II
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Oto-palato-digital syndrome, type II
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Oto-palato-digital syndrome, type II
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Oto-palato-digital syndrome, type II
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Oto-palato-digital syndrome, type II
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Oto-palato-digital syndrome, type II
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Oto-palato-digital syndrome, type II
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Lesion of bone\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Skeletal dysplasia\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Lesion of bone\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
• \Disease\Ear, nose and throat disorder\Disorder of ear\Oto-palato-digital syndrome, type II
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Oto-palato-digital syndrome, type II
• \Disease\Disorder of head (disorder)\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Oto-palato-digital syndrome, type II
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Oto-palato-digital syndrome, type II
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Oto-palato-digital syndrome, type II
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Oto-palato-digital syndrome, type II
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Oto-palato-digital syndrome, type II
• \Disease\Disorder of head (disorder)\Disorder of ear\Oto-palato-digital syndrome, type II
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
• \Disease\Developmental disorder\Developmental hereditary disorder\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Oto-palato-digital syndrome, type II
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Oto-palato-digital syndrome, type II
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Oto-palato-digital syndrome, type II
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Otopalatodigital syndrome spectrum disorder\Oto-palato-digital syndrome, type II
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Oto-palato-digital syndrome, type II

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
70799013	Oto-palato-digital syndrome, type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
493313018	Otopalatodigital syndrome type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
493314012	OPD - Otopalatodigital syndrome	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
493315013	Otopalatodigital syndrome	en	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT core
779331014	Oto-palato-digital syndrome, type II (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3330775013	A severe form of otopalatodigital syndrome spectrum disorder with characteristics of dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system and intestine) and poor survival. 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 are less severely affected.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5454182016	A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5454183014	A severe form of otopalatodigital syndrome spectrum disorder, and is characterised by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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