721086004: syndroom van doofheid, genitale anomalie en metacarpale en metatarsale synostose (aandoening)

• 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\Multiple malformation syndrome with facial-limb defects as major feature\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \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\Multiple malformation syndrome with facial-limb defects as major feature\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \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\Multiple malformation syndrome with facial-limb defects as major feature\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of metacarpal bone (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of metacarpal bone (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital dysplasia of lower limb (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Congenital dysplasia of lower limb (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital dysplasia of lower limb (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of metacarpal bone (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Finding of limb structure\Finding of lower limb\Finding of bone of lower limb (finding)\Finding of bone of foot\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Finding of limb structure\Finding of lower limb\Finding of ankle or foot (finding)\Finding of foot region\Finding of bone of foot\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Finding of limb structure\Finding of lower limb\Finding of ankle or foot (finding)\Finding of foot region\Disorder of foot (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital dysplasia of lower limb (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Finding of bone in hand\Congenital anomaly of metacarpal bone (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of metacarpal bone (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of metacarpal bone (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of bone in hand\Congenital anomaly of metacarpal bone (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of metacarpal bone (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Congenital malformation of genital organs (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Functional finding\Finding of sensory function\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Functional finding\Finding of sensory function\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Finding of bone of lower limb (finding)\Finding of bone of foot\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Finding of bone in hand\Congenital anomaly of metacarpal bone (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of metacarpal bone (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Deafness, genital anomaly, metacarpal and metatarsal synostosis 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 metacarpal bone (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis 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 metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of metacarpal bone (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Congenital dysplasia of limb (disorder)\Congenital dysplasia of lower limb (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\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, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\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, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Congenital dysplasia of lower limb (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\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, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of metacarpal bone (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Congenital dysplasia of lower limb (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital dysplasia of lower limb (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of metacarpal bone (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Deafness, genital anomaly, metacarpal and metatarsal synostosis 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 metacarpal bone (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis 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 metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of metacarpal bone (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of metacarpal bone (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of metacarpal bone (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of lower limb\Disorder of free lower limb (disorder)\Disorder of foot (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital dysplasia of lower limb (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Congenital dysplasia of lower limb (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital dysplasia of lower limb (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of metacarpal bone (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis 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, genital anomaly, metacarpal and metatarsal synostosis 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, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of metacarpal bone (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Congenital dysplasia of limb (disorder)\Congenital dysplasia of lower limb (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Deafness, genital anomaly, metacarpal and metatarsal synostosis 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, genital anomaly, metacarpal and metatarsal synostosis 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, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Congenital dysplasia of lower limb (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis 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, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of metacarpal bone (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Congenital dysplasia of lower limb (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital dysplasia of lower limb (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Congenital abnormality of foot and toes (disorder)\Congenital anomaly of metatarsal bone\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of metacarpal bone (disorder)\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3323433019	Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323434013	Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323435014	Pfeiffer Kapferer syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6612461000146118	syndroom van Pfeiffer-Kapferer	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6612471000146112	Pfeiffer-Kapferer-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6748321000146119	syndroom van doofheid, genitale anomalie en metacarpale en metatarsale synostose (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6748331000146117	syndroom van doofheid, genitale anomalie en metacarpale en metatarsale synostose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3323436010	This syndrome has characteristics of sensorineural deafness, bilateral synostosis of the fourth and fifth metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance).	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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