716238003: Deafness with epiphyseal dysplasia and short stature syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of thigh\Congenital anomaly of femur\Chitty Hall Baraitser syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of femur\Chitty Hall Baraitser syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of femur\Chitty Hall Baraitser syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Chitty Hall Baraitser syndrome
• \Finding of limb structure\Finding of lower limb\Finding of bone of lower limb\Congenital anomaly of femur\Chitty Hall Baraitser syndrome
• \Finding of limb structure\Finding of lower limb\Finding of thigh\Disorder of thigh\Congenital anomaly of femur\Chitty Hall Baraitser syndrome
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb\Disorder of thigh\Congenital anomaly of femur\Chitty Hall Baraitser syndrome
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of femur\Chitty Hall Baraitser syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Chitty Hall Baraitser syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Chitty Hall Baraitser syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Chitty Hall Baraitser syndrome
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Chitty Hall Baraitser syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Chitty Hall Baraitser syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Chitty Hall Baraitser syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Chitty Hall Baraitser syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Chitty Hall Baraitser syndrome
• \Functional finding\Hearing finding\Hearing disorder\...
• \Congenital hearing disorder\Congenital sensorineural hearing loss\Chitty Hall Baraitser syndrome
• \Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Chitty Hall Baraitser syndrome
• \Musculoskeletal finding\Bone finding\Finding of bone of lower limb\Congenital anomaly of femur\Chitty Hall Baraitser syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Chitty Hall Baraitser syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of femur\Chitty Hall Baraitser syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of epiphysis\Epiphyseal dysplasia\Chitty Hall Baraitser syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Chitty Hall Baraitser syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Epiphyseal dysplasia\Chitty Hall Baraitser syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Chitty Hall Baraitser syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Chitty Hall Baraitser syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of femur\Chitty Hall Baraitser syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of epiphysis\Epiphyseal dysplasia\Chitty Hall Baraitser syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Chitty Hall Baraitser syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Chitty Hall Baraitser syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of femur\Chitty Hall Baraitser syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Chitty Hall Baraitser syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Chitty Hall Baraitser syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Chitty Hall Baraitser syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Chitty Hall Baraitser syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Chitty Hall Baraitser syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Chitty Hall Baraitser syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Chitty Hall Baraitser syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Chitty Hall Baraitser syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Chitty Hall Baraitser syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Chitty Hall Baraitser syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Epiphyseal dysplasia\Chitty Hall Baraitser syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Chitty Hall Baraitser syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Chitty Hall Baraitser 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 anomaly of femur\Chitty Hall Baraitser syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of epiphysis\Epiphyseal dysplasia\Chitty Hall Baraitser syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Chitty Hall Baraitser syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Chitty Hall Baraitser syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of femur\Chitty Hall Baraitser syndrome
• \Disease\Disorder of extremity\Disorder of lower limb\Disorder of free lower limb\Disorder of thigh\Congenital anomaly of femur\Chitty Hall Baraitser syndrome
• \Disease\Disorder of extremity\Disorder of lower limb\Congenital anomaly of lower limb\Congenital anomaly of femur\Chitty Hall Baraitser syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of femur\Chitty Hall Baraitser syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Chitty Hall Baraitser syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Chitty Hall Baraitser syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Chitty Hall Baraitser syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Chitty Hall Baraitser syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Chitty Hall Baraitser syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of femur\Chitty Hall Baraitser syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Chitty Hall Baraitser syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Chitty Hall Baraitser syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Chitty Hall Baraitser syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of femur\Chitty Hall Baraitser syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of femur\Chitty Hall Baraitser syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Chitty Hall Baraitser syndrome
• \Disease\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss\Chitty Hall Baraitser syndrome
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Epiphyseal dysplasia\Chitty Hall Baraitser syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Chitty Hall Baraitser syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of femur\Chitty Hall Baraitser syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Chitty Hall Baraitser syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Chitty Hall Baraitser syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Chitty Hall Baraitser syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Congenital anomaly of femur\Chitty Hall Baraitser syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Chitty Hall Baraitser syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Chitty Hall Baraitser syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Chitty Hall Baraitser syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of femur\Chitty Hall Baraitser syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of lower limb\Congenital anomaly of femur\Chitty Hall Baraitser syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Chitty Hall Baraitser syndrome

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3305174018	Deafness with epiphyseal dysplasia and short stature syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3305175017	Deafness with epiphyseal dysplasia and short stature syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3305176016	Chitty Hall Baraitser syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3305177013	This syndrome has characteristics of sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit). It has been described in two brothers born to consanguineous parents. They also have dysmorphic features (triangular face, pointed chin) and bilateral obstruction of lacrimal ducts. This syndrome is transmitted as an autosomal recessive trait.	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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