721086004: Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)

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\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\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)
\Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\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 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 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

5402591016 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th 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

5402592011 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterised by sensorineural deafness, bilateral synostosis of the 4th and 5th 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

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Is a	Sensorineural hearing loss	true	Inferred relationship	Some
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Is a	Mental retardation	false	Inferred relationship	Some
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Is a	Skeletal dysplasia	true	Inferred relationship	Some
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Is a	Congenital anomaly of metatarsal bone	true	Inferred relationship	Some
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Is a	Congenital anomaly of metacarpal bone (disorder)	true	Inferred relationship	Some
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Is a	Congenital malformation of genital organs (disorder)	true	Inferred relationship	Some
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Finding site	Ear structure	false	Inferred relationship	Some	5
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Interprets	Hearing	true	Inferred relationship	Some	6
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Interprets	Functional observable	false	Inferred relationship	Some
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	7
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	7
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Finding site	Metacarpal bone structure (body structure)	false	Inferred relationship	Some	7
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	8
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	9
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	10
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	10
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Finding site	Face structure	false	Inferred relationship	Some	10
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	8
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	9
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Finding site	Metatarsal bone structure	false	Inferred relationship	Some	9
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Finding site	Genital structure	false	Inferred relationship	Some	8
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	4
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Finding site	Metacarpal bone structure (body structure)	true	Inferred relationship	Some	1
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Finding site	Metatarsal bone structure	true	Inferred relationship	Some	3
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Finding site	Genital structure	true	Inferred relationship	Some	4
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	2
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	5
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	7
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	7
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	8
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	8
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Is a	Congenital dysplasia of limb (disorder)	false	Inferred relationship	Some
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder)	Is a	Congenital dysplasia of lower limb (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

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
5402591016	Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th 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
5402592011	Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterised by sensorineural deafness, bilateral synostosis of the 4th and 5th 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