254132000: Endosteal hyperostoses with cerebellar hypoplasia (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density above reference range\Dysplasia with increased bone density\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia

\Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Endosteal hyperostoses with cerebellar hypoplasia
\Central nervous system finding\Finding of brain\Encephalopathy\Chronic brain syndrome\Endosteal hyperostoses with cerebellar hypoplasia
\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\Endosteal hyperostoses with cerebellar hypoplasia
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Endosteal hyperostoses with cerebellar hypoplasia
\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\Endosteal hyperostoses with cerebellar hypoplasia
\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\Endosteal hyperostoses with cerebellar hypoplasia
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Endosteal hyperostoses with cerebellar hypoplasia
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Endosteal hyperostoses with cerebellar hypoplasia
\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\Endosteal hyperostoses with cerebellar hypoplasia
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Endosteal hyperostoses with cerebellar hypoplasia

\Finding of head and neck region\Head finding\...

\Finding of brain\Encephalopathy\...

\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Endosteal hyperostoses with cerebellar hypoplasia

\Chronic brain syndrome\Endosteal hyperostoses with cerebellar hypoplasia

\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Endosteal hyperostoses with cerebellar hypoplasia
\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Endosteal hyperostoses with cerebellar hypoplasia

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Endosteal hyperostoses with cerebellar hypoplasia
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Endosteal hyperostoses with cerebellar hypoplasia
\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Endosteal hyperostoses with cerebellar hypoplasia
\Disorder of head\Encephalopathy\Chronic brain syndrome\Endosteal hyperostoses with cerebellar hypoplasia
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Endosteal hyperostoses with cerebellar hypoplasia
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Endosteal hyperostoses with cerebellar hypoplasia

\General finding of observation of patient\Procedure related finding\Bone density finding\Bone density above reference range\Dysplasia with increased bone density\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia

\Musculoskeletal finding\Bone finding\Bone density finding\Bone density above reference range\Dysplasia with increased bone density\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
\Musculoskeletal finding\Bone finding\Disorder of bone\Dysplasia with increased bone density\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
\Musculoskeletal finding\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Dysplasia with increased bone density\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Endosteal hyperostoses with cerebellar hypoplasia
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Endosteal hyperostoses with cerebellar hypoplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Endosteal hyperostoses with cerebellar hypoplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Endosteal hyperostoses with cerebellar hypoplasia
\Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Chronic brain syndrome\Endosteal hyperostoses with cerebellar hypoplasia
\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\Endosteal hyperostoses with cerebellar hypoplasia
\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\Endosteal hyperostoses with cerebellar hypoplasia
\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\Endosteal hyperostoses with cerebellar hypoplasia
\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\Endosteal hyperostoses with cerebellar hypoplasia
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Endosteal hyperostoses with cerebellar hypoplasia
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Endosteal hyperostoses with cerebellar hypoplasia
\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\Endosteal hyperostoses with cerebellar hypoplasia
\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\Endosteal hyperostoses with cerebellar hypoplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Dysplasia with increased bone density\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
\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\Endosteal hyperostoses with cerebellar hypoplasia
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Endosteal hyperostoses with cerebellar hypoplasia
\Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Endosteal hyperostoses with cerebellar hypoplasia
\Disease\Disorder of head\Encephalopathy\Chronic brain syndrome\Endosteal hyperostoses with cerebellar hypoplasia
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Endosteal hyperostoses with cerebellar hypoplasia
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Endosteal hyperostoses with cerebellar hypoplasia
\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\Endosteal hyperostoses with cerebellar hypoplasia
\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\Endosteal hyperostoses with cerebellar hypoplasia
\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\Endosteal hyperostoses with cerebellar hypoplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Endosteal hyperostoses with cerebellar hypoplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
\Disease\Chronic disease\Chronic nervous system disorder\Chronic brain syndrome\Endosteal hyperostoses with cerebellar hypoplasia
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
\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\Endosteal hyperostoses with cerebellar hypoplasia
\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\Endosteal hyperostoses with cerebellar hypoplasia
\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\Endosteal hyperostoses with cerebellar hypoplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Endosteal hyperostoses with cerebellar hypoplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses\Endosteal hyperostoses with cerebellar hypoplasia

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

378304011 Endosteal hyperostoses with cerebellar hypoplasia en Synonym Active Case insensitive SNOMED CT core

644981018 Endosteal hyperostoses with cerebellar hypoplasia (disorder) en Fully specified name Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Endosteal hyperostoses with cerebellar hypoplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Endosteal hyperostoses with cerebellar hypoplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Endosteal hyperostoses with cerebellar hypoplasia	Clinical course	Progressive	true	Inferred relationship	Some	4
Endosteal hyperostoses with cerebellar hypoplasia	Interprets	Osteoclast turnover rate	true	Inferred relationship	Some	3
Endosteal hyperostoses with cerebellar hypoplasia	Has interpretation	Above reference range	true	Inferred relationship	Some	2
Endosteal hyperostoses with cerebellar hypoplasia	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Endosteal hyperostoses with cerebellar hypoplasia	Interprets	Bone density scan	true	Inferred relationship	Some	2
Endosteal hyperostoses with cerebellar hypoplasia	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Endosteal hyperostoses with cerebellar hypoplasia	Associated morphology	Hypoplasia	true	Inferred relationship	Some	6
Endosteal hyperostoses with cerebellar hypoplasia	Is a	Congenital cerebellar hypoplasia	true	Inferred relationship	Some
Endosteal hyperostoses with cerebellar hypoplasia	Finding site	Cerebellar structure	true	Inferred relationship	Some	6
Endosteal hyperostoses with cerebellar hypoplasia	Is a	Chronic brain syndrome	true	Inferred relationship	Some
Endosteal hyperostoses with cerebellar hypoplasia	Occurrence	Congenital	true	Inferred relationship	Some	6
Endosteal hyperostoses with cerebellar hypoplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	6
Endosteal hyperostoses with cerebellar hypoplasia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Endosteal hyperostoses with cerebellar hypoplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Endosteal hyperostoses with cerebellar hypoplasia	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Endosteal hyperostoses with cerebellar hypoplasia	Finding site	Bone structure	false	Inferred relationship	Some	1
Endosteal hyperostoses with cerebellar hypoplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Endosteal hyperostoses with cerebellar hypoplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Endosteal hyperostoses with cerebellar hypoplasia	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Endosteal hyperostoses with cerebellar hypoplasia	Occurrence	Congenital	false	Inferred relationship	Some	2
Endosteal hyperostoses with cerebellar hypoplasia	Finding site	Bone structure	false	Inferred relationship	Some	2
Endosteal hyperostoses with cerebellar hypoplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Endosteal hyperostoses with cerebellar hypoplasia	Finding site	Bone structure	true	Inferred relationship	Some	1
Endosteal hyperostoses with cerebellar hypoplasia	Associated morphology	Abnormally hard consistency	false	Inferred relationship	Some
Endosteal hyperostoses with cerebellar hypoplasia	Occurrence	Congenital	false	Inferred relationship	Some
Endosteal hyperostoses with cerebellar hypoplasia	Is a	Endosteal hyperostoses	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
378304011	Endosteal hyperostoses with cerebellar hypoplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
644981018	Endosteal hyperostoses with cerebellar hypoplasia (disorder)	en	Fully specified name	Active	Case insensitive	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	Case sensitive	SNOMED CT core