726672000: Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Digestive system finding\Finding of mouth region\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Pfeiffer Palm Teller syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Pfeiffer Palm Teller syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Digestive system finding\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Pfeiffer Palm Teller syndrome
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Pfeiffer Palm Teller syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Pfeiffer Palm Teller syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Pfeiffer Palm Teller syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Pfeiffer Palm Teller syndrome

\Finding of head and neck region\Head finding\Finding of head region\Finding of mouth region\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of mouth region\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of mouth region\Oral cavity finding\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of mouth region\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of mouth region\Oral cavity finding\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\External ear finding\Disorder of external ear\Congenital abnormality of external ear\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Finding of head region\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\Congenital abnormality of external ear\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\External ear finding\Disorder of external ear\Congenital abnormality of external ear\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Pfeiffer Palm Teller syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Pfeiffer Palm Teller syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Pfeiffer Palm Teller syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Pfeiffer Palm Teller syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Pfeiffer Palm Teller syndrome
\Ear and auditory finding\Ear finding\External ear finding\Disorder of external ear\Congenital abnormality of external ear\Pfeiffer Palm Teller syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Pfeiffer Palm Teller syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Pfeiffer Palm Teller syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Pfeiffer Palm Teller syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Pfeiffer Palm Teller syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Pfeiffer Palm Teller syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Pfeiffer Palm Teller syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Pfeiffer Palm Teller syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Pfeiffer Palm Teller syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Pfeiffer Palm Teller syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Pfeiffer Palm Teller syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Pfeiffer Palm Teller syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Pfeiffer Palm Teller syndrome
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Pfeiffer Palm Teller syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Pfeiffer Palm Teller syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Pfeiffer Palm Teller syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Pfeiffer Palm Teller syndrome
\Disease\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Pfeiffer Palm Teller syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Pfeiffer Palm Teller syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Pfeiffer Palm Teller syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\Congenital abnormality of external ear\Pfeiffer Palm Teller syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Disorder of head\Disorder of jaw\Disorder of teeth AND/OR supporting structures\Tooth disorder\Disorder of hard tissues of teeth\Enamel hypoplasia\Pfeiffer Palm Teller syndrome
\Disease\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Disorder of head\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Pfeiffer Palm Teller syndrome
\Disease\Disorder of head\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Pfeiffer Palm Teller syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Pfeiffer Palm Teller syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Pfeiffer Palm Teller syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Congenital abnormality of external ear\Pfeiffer Palm Teller syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Pfeiffer Palm Teller syndrome
\Disease\Developmental disorder\Disorder of tooth development\Tooth malformation\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Pfeiffer Palm Teller syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Pfeiffer Palm Teller syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Congenital abnormality of external ear\Pfeiffer Palm Teller syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth\Amelogenesis imperfecta\Pfeiffer Palm Teller syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Pfeiffer Palm Teller syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3451504012 Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3451505013 Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome en Synonym Active Case insensitive SNOMED CT core

3451506014 Pfeiffer Palm Teller syndrome en Synonym Active Case sensitive SNOMED CT core

3451507017 PPT (Pfeiffer Palm Teller) syndrome en Synonym Active Case sensitive SNOMED CT core

3451508010 A very rare dysmorphic syndrome described in two siblings. The syndrome has characteristics of short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears and narrow palpebral fissures with epicanthal folds and intellectual deficit. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pfeiffer Palm Teller syndrome	Finding site	Enamel structure	true	Inferred relationship	Some	1
Pfeiffer Palm Teller syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Pfeiffer Palm Teller syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Pfeiffer Palm Teller syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Pfeiffer Palm Teller syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Pfeiffer Palm Teller syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Pfeiffer Palm Teller syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Pfeiffer Palm Teller syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Pfeiffer Palm Teller syndrome	Finding site	Face structure	true	Inferred relationship	Some	3
Pfeiffer Palm Teller syndrome	Is a	Developmental hereditary disorder	false	Inferred relationship	Some
Pfeiffer Palm Teller syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	4
Pfeiffer Palm Teller syndrome	Is a	Amelogenesis imperfecta	true	Inferred relationship	Some
Pfeiffer Palm Teller syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	5
Pfeiffer Palm Teller syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Pfeiffer Palm Teller syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	6
Pfeiffer Palm Teller syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
Pfeiffer Palm Teller syndrome	Is a	Enamel hypoplasia	true	Inferred relationship	Some
Pfeiffer Palm Teller syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Pfeiffer Palm Teller syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Pfeiffer Palm Teller syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Pfeiffer Palm Teller syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
Pfeiffer Palm Teller syndrome	Is a	Congenital abnormality of external ear	true	Inferred relationship	Some
Pfeiffer Palm Teller syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Pfeiffer Palm Teller syndrome	Is a	Digestive system hereditary disorder	false	Inferred relationship	Some
Pfeiffer Palm Teller syndrome	Is a	Congenital anomaly of tooth	false	Inferred relationship	Some
Pfeiffer Palm Teller syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Pfeiffer Palm Teller syndrome	Finding site	External ear structure	true	Inferred relationship	Some	2
Pfeiffer Palm Teller syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Pfeiffer Palm Teller syndrome	Associated morphology	Hypoplasia	false	Inferred relationship	Some	2
Pfeiffer Palm Teller syndrome	Finding site	Enamel structure	false	Inferred relationship	Some	2
Pfeiffer Palm Teller syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Pfeiffer Palm Teller syndrome	Finding site	External ear structure	false	Inferred relationship	Some	3
Pfeiffer Palm Teller syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
3451504012	Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3451505013	Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3451506014	Pfeiffer Palm Teller syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3451507017	PPT (Pfeiffer Palm Teller) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3451508010	A very rare dysmorphic syndrome described in two siblings. The syndrome has characteristics of short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears and narrow palpebral fissures with epicanthal folds and intellectual deficit.	en	Definition	Active	Case sensitive	SNOMED CT core