254132000: Endosteal hyperostoses with cerebellar hypoplasia (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density above reference range (finding)\Dysplasia with increased bone density\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Endosteal hyperostoses with cerebellar hypoplasia
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Chronic brain syndrome\Endosteal hyperostoses with cerebellar hypoplasia
• \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\Endosteal hyperostoses with cerebellar hypoplasia
• \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\Endosteal hyperostoses with cerebellar hypoplasia
• \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\Endosteal hyperostoses with cerebellar hypoplasia
• \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\Endosteal hyperostoses with cerebellar hypoplasia
• \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\Endosteal hyperostoses with cerebellar hypoplasia
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Endosteal hyperostoses with cerebellar hypoplasia
• \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\Endosteal hyperostoses with cerebellar hypoplasia
• \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\Endosteal hyperostoses with cerebellar hypoplasia
• \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\Endosteal hyperostoses with cerebellar hypoplasia
• \Chronic brain syndrome\Endosteal hyperostoses with cerebellar hypoplasia
• \anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Endosteal hyperostoses with cerebellar hypoplasia
• \anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Endosteal hyperostoses with cerebellar hypoplasia
• \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\Endosteal hyperostoses with cerebellar hypoplasia
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Endosteal hyperostoses with cerebellar hypoplasia
• \affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Endosteal hyperostoses with cerebellar hypoplasia
• \affection de la tête\Disorder of brain (disorder)\Chronic brain syndrome\Endosteal hyperostoses with cerebellar hypoplasia
• \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\Endosteal hyperostoses with cerebellar hypoplasia
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Endosteal hyperostoses with cerebellar hypoplasia
• \constatation générale à propos de l'observation du patient\constatation liée à une intervention\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
• \Musculoskeletal finding\constatation à propos de l'os\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Dysplasia with increased bone density\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis (disorder)\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
• \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\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis (disorder)\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Endosteal hyperostoses with cerebellar hypoplasia
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Endosteal hyperostoses with cerebellar hypoplasia
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Endosteal hyperostoses with cerebellar hypoplasia
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Endosteal hyperostoses with cerebellar hypoplasia
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\Chronic brain syndrome\Endosteal hyperostoses with cerebellar hypoplasia
• \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\Endosteal hyperostoses with cerebellar hypoplasia
• \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\Endosteal hyperostoses with cerebellar hypoplasia
• \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\Endosteal hyperostoses with cerebellar hypoplasia
• \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\Endosteal hyperostoses with cerebellar hypoplasia
• \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\Endosteal hyperostoses with cerebellar hypoplasia
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Endosteal hyperostoses with cerebellar hypoplasia
• \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\Endosteal hyperostoses with cerebellar hypoplasia
• \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\Endosteal hyperostoses with cerebellar hypoplasia
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis (disorder)\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
• \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\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis (disorder)\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
• \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\Endosteal hyperostoses with cerebellar hypoplasia
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Endosteal hyperostoses with cerebellar hypoplasia
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Endosteal hyperostoses with cerebellar hypoplasia
• \Disease\affection de la tête\Disorder of brain (disorder)\Chronic brain syndrome\Endosteal hyperostoses with cerebellar hypoplasia
• \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\Endosteal hyperostoses with cerebellar hypoplasia
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Endosteal hyperostoses with cerebellar hypoplasia
• \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\Endosteal hyperostoses with cerebellar hypoplasia
• \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\Endosteal hyperostoses with cerebellar hypoplasia
• \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\Endosteal hyperostoses with cerebellar hypoplasia
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Endosteal hyperostoses with cerebellar hypoplasia
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis (disorder)\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
• \Disease\maladie chronique\trouble neurologique chronique\Chronic brain syndrome\Endosteal hyperostoses with cerebellar hypoplasia
• \Disease\maladie chronique\maladie chronique de l'appareil locomoteur\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
• \Disease\trouble du développement\Developmental hereditary disorder\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
• \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\Endosteal hyperostoses with cerebellar hypoplasia
• \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\Endosteal hyperostoses with cerebellar hypoplasia
• \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\Endosteal hyperostoses with cerebellar hypoplasia
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Endosteal hyperostoses with cerebellar hypoplasia
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis (disorder)\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
378304011	Endosteal hyperostoses with cerebellar hypoplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
644981018	Endosteal hyperostoses with cerebellar hypoplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4555613010	Syndrome with characteristics of congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy and dysarthria. It is appears to be transmitted as an autosomal recessive trait.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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