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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of limb structure\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Finding of limb structure\Finding of lower limb\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Neurological lesion\Lesion of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Central nervous system finding\Finding of brain\Lesion of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Finding of head and neck region\Head finding (finding)\...
• \Finding of head circumference\Macrocephaly (finding)\Congenital macrocephaly (disorder)\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Finding of brain\Lesion of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Finding of brain\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \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\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \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\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly (disorder)\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \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\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disorder of head (disorder)\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \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\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \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 (disorder)
• \Finding of head circumference\Macrocephaly (finding)\Congenital macrocephaly (disorder)\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Paralytic syndrome of both lower limbs (disorder)\Paraplegia\Spastic paraplegia\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spastic syndrome (disorder)\Spastic paraplegia\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Disorder of lower extremity (disorder)\Paraplegia\Spastic paraplegia\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly (disorder)\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disease\Mental disorder\Developmental mental disorder\Intellectual disability\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disease\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\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disease\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\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disease\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\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disease\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\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disease\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\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Cystic malformation of posterior fossa (disorder)\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia 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\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Dandy-Walker syndrome\Macrocephaly, short stature, paraplegia syndrome (disorder)
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Macrocephaly, short stature, paraplegia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330236015	Macrocephaly, short stature, paraplegia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330237012	Volcke Soekarman syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
3919371000052119	syndrom med makrocefali, kortväxthet och paraplegi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

Back to Start