82203000: Treacher Collins syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Treacher Collins syndrome
• \Head finding (finding)\Skull finding\Disorder of skull (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Treacher Collins syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Treacher Collins syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Treacher Collins syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of bone of head\Congenital anomaly of skull\Dysostosis of bone of skull\Treacher Collins syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Treacher Collins syndrome
• \Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Treacher Collins syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Lesion of bone\Dysostosis\Dysostosis of bone of skull\Treacher Collins syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of bone of head\Congenital anomaly of skull\Dysostosis of bone of skull\Treacher Collins syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Treacher Collins syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Treacher Collins syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Treacher Collins syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Structural abnormality of axial skeleton (disorder)\Congenital anomaly of bone of head\Congenital anomaly of skull\Dysostosis of bone of skull\Treacher Collins syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Lesion of bone\Dysostosis\Dysostosis of bone of skull\Treacher Collins syndrome
• \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\Congenital anomaly of bone of head\Congenital anomaly of skull\Dysostosis of bone of skull\Treacher Collins syndrome
• \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\Dysostosis\Dysostosis of bone of skull\Treacher Collins syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Treacher Collins syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Lesion of bone\Dysostosis\Dysostosis of bone of skull\Treacher Collins syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of bone of head\Congenital anomaly of skull\Dysostosis of bone of skull\Treacher Collins syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Treacher Collins syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Treacher Collins syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Treacher Collins syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone of head\Congenital anomaly of skull\Dysostosis of bone of skull\Treacher Collins syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Treacher Collins syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Treacher Collins syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Treacher Collins syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Treacher Collins syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Treacher Collins syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of bone of head\Congenital anomaly of skull\Dysostosis of bone of skull\Treacher Collins syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Treacher Collins syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Treacher Collins syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone of head\Congenital anomaly of skull\Dysostosis of bone of skull\Treacher Collins syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Treacher Collins syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Treacher Collins syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Treacher Collins syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Structural abnormality of axial skeleton (disorder)\Congenital anomaly of bone of head\Congenital anomaly of skull\Dysostosis of bone of skull\Treacher Collins syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Lesion of bone\Dysostosis\Dysostosis of bone of skull\Treacher Collins syndrome
• \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\Congenital anomaly of bone of head\Congenital anomaly of skull\Dysostosis of bone of skull\Treacher Collins syndrome
• \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\Dysostosis\Dysostosis of bone of skull\Treacher Collins syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Structural abnormality of skeleton (disorder)\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Treacher Collins syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Lesion of bone\Dysostosis\Dysostosis of bone of skull\Treacher Collins syndrome
• \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\Congenital anomaly of bone of head\Congenital anomaly of skull\Dysostosis of bone of skull\Treacher Collins syndrome
• \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\Dysostosis\Dysostosis of bone of skull\Treacher Collins syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Treacher Collins syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Treacher Collins syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone of head\Congenital anomaly of skull\Dysostosis of bone of skull\Treacher Collins syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Treacher Collins syndrome
• \Disease\Disorder of head (disorder)\Disorder of skull (disorder)\Congenital anomaly of skull\Dysostosis of bone of skull\Treacher Collins syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Treacher Collins syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of bone of head\Congenital anomaly of skull\Dysostosis of bone of skull\Treacher Collins syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Treacher Collins syndrome
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of bone of head\Congenital anomaly of skull\Dysostosis of bone of skull\Treacher Collins syndrome
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Treacher Collins syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Treacher Collins syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Treacher Collins syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of bone of head\Congenital anomaly of skull\Dysostosis of bone of skull\Treacher Collins syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Treacher Collins syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Dysostosis of bone of skull\Treacher Collins syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone of head\Congenital anomaly of skull\Dysostosis of bone of skull\Treacher Collins syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Dysostosis of bone of skull\Treacher Collins syndrome

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
136345015	Treacher Collins syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
136346019	Mandibulofacial dysostosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
823577011	Treacher Collins syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3788353018	Franceschetti Klein syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5447456019	Mandibulofacial dysostosis without limb anomalies	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3788354012	A congenital disorder of craniofacial development with characteristics of bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. The syndrome is caused by mutations in the TCOF1 gene (5q32) encoding the nucleolar phosphoprotein Treacle or in the POLR1C (6p21.1) or POLR1D (13q12.2) genes, coding for RNA polymerase I and III subunits. Transmission is autosomal dominant with 90% penetrance and variable expressivity, even among affected patients within the same family. Mutations in POLR1C gene are inherited in autosomal recessive manner.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5447457011	A rare genetic mandibulofacial dysostosis characterized by bilateral symmetrical oto-mandibular dysplasia including underdeveloped cheekbones (malar hypoplasia), a very small low jaw (micrognathia) and downward-slanting palpebral fissures, coloboma of the lower eyelids, microtia, hearing loss and without abnormalities of the extremities. Intelligence is normal.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5447458018	A rare genetic mandibulofacial dysostosis characterised by bilateral symmetrical oto-mandibular dysplasia including underdeveloped cheekbones (malar hypoplasia), a very small low jaw (micrognathia) and downward-slanting palpebral fissures, coloboma of the lower eyelids, microtia, hearing loss and without abnormalities of the extremities. Intelligence is normal.	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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