773628009: Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Orofacial cleft\Cleft palate\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Finding of head region\Palate finding\Disorder of palate\Congenital anomaly of palate\Cleft palate\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Skull finding\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disorder of head\Disorder of palate\Congenital anomaly of palate\Cleft palate\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disorder of head\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Microphthalmos\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Disorder of head\Disorder of palate\Congenital anomaly of palate\Cleft palate\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Disorder of head\Disorder of skull\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Frontonasal dysplasia sequence\Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3724878013	Frontonasal dysplasia type 3	en	Synonym	Active	Case insensitive	SNOMED CT core
3724879017	ALX1-related frontonasal dysplasia	en	Synonym	Active	Case sensitive	SNOMED CT core
3724880019	Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3724881015	ALX1 (aristaless-like homeobox 1) related frontonasal dysplasia	en	Synonym	Active	Case sensitive	SNOMED CT core
3724882010	Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3724883017	A rare genetic orofacial clefting malformation syndrome with characteristics of severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphthalmia and hypertelorism. Frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region. There is evidence the disease is caused by homozygous mutation in the ALX1 gene on chromosome 12q21.	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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