1217228004: X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia 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\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia 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\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia 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\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia 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\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\...
• \Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia 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\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia 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\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia 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\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia 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\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia 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\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia 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\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia 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\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia 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\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia 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\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia 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\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia 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\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia 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\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia 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\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia 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\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome

Status: current, Primitive. Date: 30-Apr 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5035217014	X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5035218016	X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
5035224010	A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay, intellectual disability, growth retardation, hypotonia, cerebellar symptoms such as ataxia, spondyloepiphyseal dysplasia and dysmorphic craniofacial features (including microcephaly, dolichocephaly, prominent ears, epicanthus, broad nasal bridge, long and flat philtrum, or small mouth). Additional reported manifestations are epilepsy, retinitis pigmentosa and urogenital abnormalities among others. Brain imaging may show cerebellar hypoplasia.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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