723612001: Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Neurological lesion\Lesion of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\Lesion of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract 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 cerebellar hypoplasia\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Lesion of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract 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 cerebellar hypoplasia\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome

\Finding of head and neck region\Head finding\...

\Finding of brain\Encephalopathy\...

\Lesion of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome

\Hydrocephalus\Congenital hydrocephalus\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome

\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome

\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disorder of head\Encephalopathy\Lesion of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disorder of head\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome

\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy\Spinal muscular atrophy, Dandy-Walker malformation, cataract 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 cerebellar hypoplasia\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of body system\Neurological 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\Spinal muscular atrophy, Dandy-Walker malformation, cataract 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\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of body system\Neurological disorder\Motor neurone disease\Lower motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of body system\Neurological disorder\Motor neurone disease\Hereditary motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy\Spinal muscular atrophy, Dandy-Walker malformation, cataract 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 cerebellar hypoplasia\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract 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\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Lesion of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract 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 cerebellar hypoplasia\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of head\Encephalopathy\Lesion of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of head\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract 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 cerebellar hypoplasia\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Congenital disease\Congenital anomaly\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\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract 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 cerebellar hypoplasia\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract 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 cerebellar hypoplasia\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Developmental disorder\Congenital anomaly\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\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract 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 cerebellar hypoplasia\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital polar cataract\Congenital anterior polar cataract\Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3425260014 Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3425261013 Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome en Synonym Active Initial character case insensitive SNOMED CT core

3425262018 Syndrome with characteristics of infantile symmetrical distal muscle weakness and atrophy of the lower limbs, bilateral anterior polar cataracts and Dandy-Walker malformation. It has been described in two brothers. No sensorineural or cognitive deficits were observed. The karyotypes of the two patients were normal. No mutations were found in the survival motor neurone (SMN), neuronal apoptosis inhibitory protein (NAIP) or androgen receptor genes. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Finding site	Structure of anterior pole of lens	true	Inferred relationship	Some	1
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Finding site	Cerebellar vermis structure	true	Inferred relationship	Some	3
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Associated morphology	Congenital cavitation	false	Inferred relationship	Some	4
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Associated morphology	Hypoplasia	true	Inferred relationship	Some	3
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Finding site	Fourth ventricle structure	false	Inferred relationship	Some	4
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Associated morphology	Congenital malrotation	true	Inferred relationship	Some	2
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Finding site	Cerebellar vermis structure	true	Inferred relationship	Some	2
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Associated morphology	Cataract	false	Inferred relationship	Some	1
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Associated morphology	Cystic dilatation	true	Inferred relationship	Some	5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Associated morphology	Cystic dilatation	true	Inferred relationship	Some	4
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Associated morphology	Abnormally opaque structure	true	Inferred relationship	Some	1
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Finding site	Fourth ventricle structure	true	Inferred relationship	Some	5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Finding site	Infratentorial brain structure	true	Inferred relationship	Some	4
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Is a	Dandy-Walker syndrome	true	Inferred relationship	Some
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Is a	Distal spinal muscular atrophy	true	Inferred relationship	Some
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Is a	Congenital anterior polar cataract	true	Inferred relationship	Some
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Occurrence	Congenital	true	Inferred relationship	Some	5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Occurrence	Congenital	false	Inferred relationship	Some	7
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Occurrence	Congenital	false	Inferred relationship	Some	9
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Associated morphology	Aplasia	false	Inferred relationship	Some	6
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Finding site	Cerebellar vermis structure	false	Inferred relationship	Some	6
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Finding site	Cerebellar vermis structure	false	Inferred relationship	Some	5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Finding site	Lateral aperture of fourth ventricle	false	Inferred relationship	Some	5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Finding site	Foramen of Magendie	false	Inferred relationship	Some	5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Associated morphology	Congenital cataract	false	Inferred relationship	Some	7
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Finding site	Structure of anterior pole of lens	false	Inferred relationship	Some	7
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Associated morphology	Congenital dilatation	false	Inferred relationship	Some	9
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Finding site	Brain CSF pathway	false	Inferred relationship	Some	9
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Associated morphology	Congenital cavitation	false	Inferred relationship	Some	8
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Finding site	Infratentorial brain structure	false	Inferred relationship	Some	8
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Associated morphology	Congenital cavitation	false	Inferred relationship	Some	5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	Finding site	Infratentorial brain structure	false	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3425260014	Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3425261013	Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3425262018	Syndrome with characteristics of infantile symmetrical distal muscle weakness and atrophy of the lower limbs, bilateral anterior polar cataracts and Dandy-Walker malformation. It has been described in two brothers. No sensorineural or cognitive deficits were observed. The karyotypes of the two patients were normal. No mutations were found in the survival motor neurone (SMN), neuronal apoptosis inhibitory protein (NAIP) or androgen receptor genes.	en	Definition	Active	Case sensitive	SNOMED CT core