777998000: Temtamy preaxial brachydactyly syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Deformity\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Temtamy preaxial brachydactyly syndrome
• \Deformity\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Temtamy preaxial brachydactyly syndrome
• \Digestive system finding\Finding of mouth region\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Temtamy preaxial brachydactyly syndrome
• \Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Digestive system finding\Finding of mouth region\Oral cavity finding\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Temtamy preaxial brachydactyly syndrome
• \Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Temtamy preaxial brachydactyly syndrome
• \Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Hereditary disorder of tooth\Temtamy preaxial brachydactyly syndrome
• \Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Temtamy preaxial brachydactyly syndrome
• \Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Hereditary disorder of tooth\Temtamy preaxial brachydactyly syndrome
• \Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Temtamy preaxial brachydactyly syndrome
• \Finding of limb structure\Deformity of limb\Longitudinal deficiency of part of limb\Brachydactyly\Temtamy preaxial brachydactyly syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Temtamy preaxial brachydactyly syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Temtamy preaxial brachydactyly syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Temtamy preaxial brachydactyly syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Finding of mouth region\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Finding of head region\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Temtamy preaxial brachydactyly syndrome
• \Finding of head region\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Finding of head region\Finding of mouth region\Oral cavity finding\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Finding of head region\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Temtamy preaxial brachydactyly syndrome
• \Finding of head region\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Finding of head region\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Temtamy preaxial brachydactyly syndrome
• \Finding of head region\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Temtamy preaxial brachydactyly syndrome
• \Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Finding of head region\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Temtamy preaxial brachydactyly syndrome
• \Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Temtamy preaxial brachydactyly syndrome
• \Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Temtamy preaxial brachydactyly syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Temtamy preaxial brachydactyly syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Temtamy preaxial brachydactyly syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Temtamy preaxial brachydactyly syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Temtamy preaxial brachydactyly syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Temtamy preaxial brachydactyly syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Temtamy preaxial brachydactyly syndrome
• \Functional finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Temtamy preaxial brachydactyly syndrome
• \Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Temtamy preaxial brachydactyly syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Temtamy preaxial brachydactyly syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Temtamy preaxial brachydactyly syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Temtamy preaxial brachydactyly syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Temtamy preaxial brachydactyly syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Temtamy preaxial brachydactyly syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Temtamy preaxial brachydactyly syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Temtamy preaxial brachydactyly syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Temtamy preaxial brachydactyly syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Temtamy preaxial brachydactyly syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Temtamy preaxial brachydactyly syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Temtamy preaxial brachydactyly syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Hereditary disorder of tooth\Temtamy preaxial brachydactyly syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Temtamy preaxial brachydactyly syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Temtamy preaxial brachydactyly syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Temtamy preaxial brachydactyly syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Temtamy preaxial brachydactyly syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Hereditary disorder of tooth\Temtamy preaxial brachydactyly syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Temtamy preaxial brachydactyly syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Temtamy preaxial brachydactyly syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Temtamy preaxial brachydactyly syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Temtamy preaxial brachydactyly syndrome
• \Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Hereditary disorder of tooth\Temtamy preaxial brachydactyly syndrome
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Temtamy preaxial brachydactyly syndrome
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Hereditary disorder of tooth\Temtamy preaxial brachydactyly syndrome
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Temtamy preaxial brachydactyly syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Temtamy preaxial brachydactyly 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\Temtamy preaxial brachydactyly syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Temtamy preaxial brachydactyly syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Temtamy preaxial brachydactyly syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Temtamy preaxial brachydactyly syndrome
• \Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Temtamy preaxial brachydactyly syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Temtamy preaxial brachydactyly syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Temtamy preaxial brachydactyly syndrome
• \Disease\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Disease\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Temtamy preaxial brachydactyly syndrome
• \Disease\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Disease\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Temtamy preaxial brachydactyly syndrome
• \Disease\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Disease\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Temtamy preaxial brachydactyly syndrome
• \Disease\Metabolic disease\Metabolic bone disease\Temtamy preaxial brachydactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Temtamy preaxial brachydactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Temtamy preaxial brachydactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Temtamy preaxial brachydactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Temtamy preaxial brachydactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Temtamy preaxial brachydactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Temtamy preaxial brachydactyly syndrome
• \Disease\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss\Temtamy preaxial brachydactyly syndrome
• \Disease\Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\Temtamy preaxial brachydactyly syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Temtamy preaxial brachydactyly syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Temtamy preaxial brachydactyly syndrome
• \Disease\Developmental disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Temtamy preaxial brachydactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Temtamy preaxial brachydactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Longitudinal deficiency of part of limb\Brachydactyly\Temtamy preaxial brachydactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Temtamy preaxial brachydactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Temtamy preaxial brachydactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Temtamy preaxial brachydactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of part of limb\Brachydactyly\Temtamy preaxial brachydactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly\Temtamy preaxial brachydactyly syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3736348018	Temtamy preaxial brachydactyly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3736349014	Temtamy preaxial brachydactyly syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3732002017	A rare genetic dysostosis syndrome with characteristics of bilateral symmetrical preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (including misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia. There is evidence the disease is caused by homozygous mutation in the CHSY1 gene on chromosome 15q26.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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