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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305175017	Deafness with epiphyseal dysplasia and short stature syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3305176016	Chitty Hall Baraitser syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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