838441009: Intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Deformity\Deformity of limb\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\MASA syndrome
• \Deformity\Deformity of limb\Deformity of upper limb\Deformity of hand\Congenital deformity of hand\MASA syndrome
• \Deformity\Deformity of limb\Deformity of upper limb\Deformity of hand\Deformity of thumb\MASA syndrome
• \Deformity\Congenital deformity\Congenital deformity of upper limb\Congenital deformity of hand\MASA syndrome
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\L1 syndrome\MASA syndrome
• \Finding of limb structure\Deformity of limb\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\MASA syndrome
• \Finding of limb structure\Deformity of limb\Deformity of upper limb\Deformity of hand\Congenital deformity of hand\MASA syndrome
• \Finding of limb structure\Deformity of limb\Deformity of upper limb\Deformity of hand\Deformity of thumb\MASA syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of thumb\MASA syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\MASA syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital deformity of hand\MASA syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\MASA syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\MASA syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital deformity of hand\MASA syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\MASA syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\MASA syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\MASA syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\MASA syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital deformity of hand\MASA syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\MASA syndrome
• \Finding of limb structure\Finding of upper limb\Deformity of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\MASA syndrome
• \Finding of limb structure\Finding of upper limb\Deformity of upper limb\Deformity of hand\Congenital deformity of hand\MASA syndrome
• \Finding of limb structure\Finding of upper limb\Deformity of upper limb\Deformity of hand\Deformity of thumb\MASA syndrome
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital deformity of hand\MASA syndrome
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\MASA syndrome
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\MASA syndrome
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital deformity of hand\MASA syndrome
• \Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\MASA syndrome
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of thumb\Congenital anomaly of thumb\MASA syndrome
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of thumb\Deformity of thumb\MASA syndrome
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Deformity of hand\Congenital deformity of hand\MASA syndrome
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Deformity of hand\Deformity of thumb\MASA syndrome
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Congenital anomaly of hand\Congenital deformity of hand\MASA syndrome
• \Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\MASA syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\L1 syndrome\MASA syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\L1 syndrome\MASA syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\L1 syndrome\MASA syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\L1 syndrome\MASA syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\L1 syndrome\MASA syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\...
• \Hydrocephalus\Congenital hydrocephalus\L1 syndrome\MASA syndrome
• \Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Congenital anomaly of brain\Congenital hydrocephalus\L1 syndrome\MASA syndrome
• \Leukoencephalopathy\Congenital anomaly of corpus callosum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Finding of head region\Leukoencephalopathy\Congenital anomaly of corpus callosum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\L1 syndrome\MASA syndrome
• \Disorder of head\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\L1 syndrome\MASA syndrome
• \Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\L1 syndrome\MASA syndrome
• \Disorder of head\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\L1 syndrome\MASA syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\L1 syndrome\MASA syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\L1 syndrome\MASA syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\L1 syndrome\MASA syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\L1 syndrome\MASA syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\L1 syndrome\MASA syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\L1 syndrome\MASA syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\L1 syndrome\MASA syndrome
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\L1 syndrome\MASA syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\L1 syndrome\MASA syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\L1 syndrome\MASA syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\L1 syndrome\MASA syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital anomaly of thumb\MASA syndrome
• \Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\MASA syndrome
• \Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital deformity of hand\MASA syndrome
• \Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Congenital anomaly of thumb\MASA syndrome
• \Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\MASA syndrome
• \Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital deformity of hand\MASA syndrome
• \Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\MASA syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\MASA syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\MASA syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\MASA syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital deformity of hand\MASA syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\MASA syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\L1 syndrome\MASA syndrome
• \Disease\Disorder of head\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\L1 syndrome\MASA syndrome
• \Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\L1 syndrome\MASA syndrome
• \Disease\Disorder of head\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\L1 syndrome\MASA syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital deformity\Congenital deformity of upper limb\Congenital deformity of hand\MASA syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\L1 syndrome\MASA syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\L1 syndrome\MASA syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\MASA syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\MASA syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\MASA syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital deformity of hand\MASA syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\MASA syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\L1 syndrome\MASA syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\L1 syndrome\MASA syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\L1 syndrome\MASA syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Congenital deformity of upper limb\Congenital deformity of hand\MASA syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\L1 syndrome\MASA syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital hypoplasia of cerebrum\Hypoplasia of corpus callosum\L1 syndrome\MASA syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\L1 syndrome\MASA syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital anomaly of thumb\MASA syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\MASA syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital deformity of upper limb\Congenital deformity of hand\MASA syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital deformity of hand\MASA syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Congenital anomaly of thumb\MASA syndrome

Status: current, Primitive. Date: 31-Jul 2020. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3896942012	MASA syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3896944013	MASA (mental retardation, adducted thumbs, shuffling gait, aphasia) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3896946010	Intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3896947018	Mental retardation, adducted thumbs, shuffling gait, aphasia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5155236011	Intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3896943019	An X-linked clinical subtype of L1 syndrome with characteristics of mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs and mild to moderate distension of the cerebral ventricles.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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