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

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\...
• \affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \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\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\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\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\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 malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\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 malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome
• \Disease\trouble du développement\retard de développement\Global developmental delay\X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5035218016	X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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