722033000: Macrocephaly, short stature, paraplegia syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Macrocephaly, short stature, paraplegia syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Macrocephaly, short stature, paraplegia syndrome
• \Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Macrocephaly, short stature, paraplegia syndrome
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Macrocephaly, short stature, paraplegia syndrome
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Macrocephaly, short stature, paraplegia syndrome
• \Neurological lesion\Lesion of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Finding of movement\Movement disorder\Extrapyramidal disease\Macrocephaly, short stature, paraplegia syndrome
• \Finding of movement\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Macrocephaly, short stature, paraplegia syndrome
• \Finding of movement\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Macrocephaly, short stature, paraplegia syndrome
• \Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Macrocephaly, short stature, paraplegia syndrome
• \Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Macrocephaly, short stature, paraplegia syndrome
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Macrocephaly, short stature, paraplegia syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Lesion of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Extrapyramidal disease\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Central nervous system finding\Disorder of the central nervous system\Spastic syndrome\Spastic paraplegia\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Lesion of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Macrocephaly\Congenital macrocephaly\Macrocephaly, short stature, paraplegia syndrome
• \Finding of brain\Encephalopathy\...
• \Lesion of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Hydrocephalus\Congenital hydrocephalus\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Extrapyramidal disease\Macrocephaly, short stature, paraplegia syndrome
• \Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, short stature, paraplegia syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, short stature, paraplegia syndrome
• \Disorder of head\Congenital anomaly of head\Congenital macrocephaly\Macrocephaly, short stature, paraplegia syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Disorder of head\Encephalopathy\Lesion of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Disorder of head\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Disorder of head\Encephalopathy\Extrapyramidal disease\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia syndrome
• \Disorder of head\Encephalopathy\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Macrocephaly, short stature, paraplegia syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Macrocephaly, short stature, paraplegia syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Macrocephaly, short stature, paraplegia syndrome
• \General finding of observation of patient\Body measurement finding\...
• \Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Macrocephaly, short stature, paraplegia syndrome
• \Finding of head circumference\Macrocephaly\Congenital macrocephaly\Macrocephaly, short stature, paraplegia syndrome
• \Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\...
• \Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Macrocephaly, short stature, paraplegia syndrome
• \Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Disorder of body system\Neurological disorder\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Spastic syndrome\Spastic paraplegia\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Disorder of extremity\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Disorder of extremity\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital macrocephaly\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Disorder of head\Encephalopathy\Lesion of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Disorder of head\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Disorder of head\Encephalopathy\Extrapyramidal disease\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital macrocephaly\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Movement disorder\Extrapyramidal disease\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital macrocephaly\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Cystic malformation of posterior fossa\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Macrocephaly, short stature, paraplegia syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3325083016	Macrocephaly, short stature, paraplegia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3330236015	Macrocephaly, short stature, paraplegia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3330237012	Volcke Soekarman syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3330238019	This syndrome has characteristics of macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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