766870005: Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Epiphyseal dysplasia, hearing loss, dysmorphism 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\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Chronic disease of ear\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Finding of head and neck region\Head finding\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\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Finding of head and neck region\Head finding\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\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Chronic disease of ear\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Chronic disease of ear\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Chronic disease of ear\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Ear and auditory finding\Disorder of auditory system\Disorder of ear\Chronic disease of ear\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Ear and auditory finding\Ear finding\Disorder of ear\Chronic disease of ear\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Functional finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Functional finding\Hearing finding\Hearing disorder\Hearing loss\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of epiphysis\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of epiphysis\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Chronic disease of ear\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism 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\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of epiphysis\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Disease\Ear, nose and throat disorder\Disorder of ear\Chronic disease of ear\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Epiphyseal dysplasia, hearing loss, dysmorphism 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\Epiphyseal dysplasia, hearing loss, dysmorphism 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\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Disease\Disorder of head\Disorder of ear\Chronic disease of ear\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism 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\Epiphyseal dysplasia, hearing loss, dysmorphism 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\Epiphyseal dysplasia, hearing loss, dysmorphism 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\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Disease\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Disease\Chronic disease\Chronic disease of ear\Chronic deafness\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism 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\Epiphyseal dysplasia, hearing loss, dysmorphism 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\Epiphyseal dysplasia, hearing loss, dysmorphism 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\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Epiphyseal dysplasia, hearing loss, dysmorphism syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3662960019	Finucane Kurtz Scott syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3662961015	Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3662962010	Epiphyseal dysplasia, hearing loss, dysmorphism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3664260010	A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (including epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (including abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Severe behaviour disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns are also associated. There have been no further descriptions in the literature since 1992.	en	Definition	Active	Case sensitive	SNOMED CT core
3664261014	A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (including epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (including abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns are also associated. There have been no further descriptions in the literature since 1992.	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

Back to Start