733417008: Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head circumference\Macrocephaly (finding)\Congenital macrocephaly (disorder)\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Lesion of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\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\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation 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\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly (disorder)\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation 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\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Lesion of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)

\Body measurement finding\Finding of head circumference\Macrocephaly (finding)\Congenital macrocephaly (disorder)\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)

\Neurological lesion\Lesion of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Lesion of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Lesion of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)

\Eye / vision finding\Visual system disorder\...

\Hereditary disorder of the visual system (disorder)\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)

\Disorder of vision\Disorder of refraction AND/OR accommodation\Disorder of refraction\Myopia\Severe myopia\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation 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\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\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 cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation 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\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of vision\Disorder of refraction AND/OR accommodation\Disorder of refraction\Myopia\Severe myopia\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (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 cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Lesion of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation 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\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly (disorder)\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation 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\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Lesion of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\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 cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation 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\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

3499396013 Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3499397016 Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5403771017 A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403772012 A rare multiple congenital anomalies/dysmorphic syndrome characterised by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989. 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
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Is a	Dandy-Walker syndrome	true	Inferred relationship	Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Is a	Macrocephaly	false	Inferred relationship	Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Is a	Severe myopia	true	Inferred relationship	Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Is a	Mental retardation	false	Inferred relationship	Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	7
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	8
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	9
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Associated morphology	Congenital cavitation	false	Inferred relationship	Some	10
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Finding site	Infratentorial brain structure (body structure)	false	Inferred relationship	Some	10
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	13
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	11
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Finding site	Cerebellar vermis structure	false	Inferred relationship	Some	12
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	12
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Finding site	Lateral aperture of fourth ventricle	false	Inferred relationship	Some	12
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Finding site	Foramen of Magendie	false	Inferred relationship	Some	12
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	7
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Finding site	Face structure	false	Inferred relationship	Some	7
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Associated morphology	Congenital dilatation	false	Inferred relationship	Some	13
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Finding site	Brain cerebrospinal fluid pathway	false	Inferred relationship	Some	13
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Finding site	Cerebellar vermis structure	false	Inferred relationship	Some	9
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Associated morphology	Aplasia	false	Inferred relationship	Some	9
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Associated morphology	Congenital enlargement	false	Inferred relationship	Some	11
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Finding site	Entire head	false	Inferred relationship	Some	11
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Finding site	Structure of visual system (body structure)	false	Inferred relationship	Some	8
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Associated morphology	Congenital cavitation	false	Inferred relationship	Some	7
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Finding site	Infratentorial brain structure (body structure)	false	Inferred relationship	Some	7
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	6
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	6
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Finding site	Entire head	false	Inferred relationship	Some	1
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	7
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	5
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Finding site	Cerebellar vermis structure	true	Inferred relationship	Some	5
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Associated morphology	Congenital enlargement	false	Inferred relationship	Some	1
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	1
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	3
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Finding site	Structure of visual system (body structure)	true	Inferred relationship	Some	2
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	5
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Associated morphology	Congenital cavitation	false	Inferred relationship	Some	6
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Associated morphology	Hypoplasia	true	Inferred relationship	Some	5
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Finding site	Fourth ventricle structure	false	Inferred relationship	Some	6
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Associated morphology	Congenital malrotation (morphologic abnormality)	true	Inferred relationship	Some	4
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Finding site	Cerebellar vermis structure	true	Inferred relationship	Some	4
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Associated morphology	Cystic dilatation (morphologic abnormality)	true	Inferred relationship	Some	6
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Associated morphology	Enlargement (morphologic abnormality)	false	Inferred relationship	Some	1
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Associated morphology	Cystic dilatation (morphologic abnormality)	true	Inferred relationship	Some	7
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Finding site	Fourth ventricle structure	true	Inferred relationship	Some	7
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Finding site	Infratentorial brain structure (body structure)	true	Inferred relationship	Some	6
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Is a	Congenital macrocephaly (disorder)	true	Inferred relationship	Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Has interpretation	Above reference range	true	Inferred relationship	Some	8
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Interprets	Head circumference	true	Inferred relationship	Some	8
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	1
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	1
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	9
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	9

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
3499396013	Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3499397016	Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5403771017	A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403772012	A rare multiple congenital anomalies/dysmorphic syndrome characterised by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core