724226009: Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Encephalopathy\Chronic brain syndrome\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome

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

\Finding of brain\Encephalopathy\...

\Chronic brain syndrome\Infantile osteopetrosis with neuroaxonal dysplasia syndrome

\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome

\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome

\Finding of head region\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Finding of head region\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disorder of head\Encephalopathy\Chronic brain syndrome\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disorder of head\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Osteopetrosis\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Osteopetrosis\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Infantile osteopetrosis with neuroaxonal dysplasia syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteopetrosis\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Chronic brain syndrome\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal 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 anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal 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 anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal 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\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal 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\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Osteopetrosis\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Osteopetrosis\Infantile osteopetrosis with neuroaxonal 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\Osteopetrosis\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Disorder of head\Encephalopathy\Chronic brain syndrome\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Disorder of head\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Chronic disease\Chronic nervous system disorder\Chronic brain syndrome\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Osteopetrosis\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Osteopetrosis\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Infantile osteopetrosis with neuroaxonal dysplasia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Infantile osteopetrosis with neuroaxonal dysplasia syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3437863010 Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3437864016 Infantile osteopetrosis with neuroaxonal dysplasia syndrome en Synonym Active Case insensitive SNOMED CT core

3437865015 Infantile osteopetrosis with neuroaxonal dysplasia en Synonym Active Case insensitive SNOMED CT core

3437866019 This syndrome has characteristics of osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus. It has been described in a brother and a sister born to nonconsanguineous Caucasian parents. The children died at the ages of 1 and 9 months, respectively. Several additional cases combining axonal dystrophy and osteopetrosis have been described. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Infantile osteopetrosis with neuroaxonal dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Infantile osteopetrosis with neuroaxonal dysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Infantile osteopetrosis with neuroaxonal dysplasia syndrome	Finding site	Bone structure	true	Inferred relationship	Some	1
Infantile osteopetrosis with neuroaxonal dysplasia syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Infantile osteopetrosis with neuroaxonal dysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Infantile osteopetrosis with neuroaxonal dysplasia syndrome	Associated morphology	Agenesis	true	Inferred relationship	Some	2
Infantile osteopetrosis with neuroaxonal dysplasia syndrome	Is a	Chronic brain syndrome	true	Inferred relationship	Some
Infantile osteopetrosis with neuroaxonal dysplasia syndrome	Interprets	Osteoclast turnover rate	true	Inferred relationship	Some	3
Infantile osteopetrosis with neuroaxonal dysplasia syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Infantile osteopetrosis with neuroaxonal dysplasia syndrome	Clinical course	Progressive	true	Inferred relationship	Some	4
Infantile osteopetrosis with neuroaxonal dysplasia syndrome	Is a	Osteopetrosis	true	Inferred relationship	Some
Infantile osteopetrosis with neuroaxonal dysplasia syndrome	Is a	Agenesis of corpus callosum	true	Inferred relationship	Some
Infantile osteopetrosis with neuroaxonal dysplasia syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Infantile osteopetrosis with neuroaxonal dysplasia syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Infantile osteopetrosis with neuroaxonal dysplasia syndrome	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Infantile osteopetrosis with neuroaxonal dysplasia syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Infantile osteopetrosis with neuroaxonal dysplasia syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Infantile osteopetrosis with neuroaxonal dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Infantile osteopetrosis with neuroaxonal dysplasia syndrome	Finding site	Bone structure	false	Inferred relationship	Some	2
Infantile osteopetrosis with neuroaxonal dysplasia syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Some	3
Infantile osteopetrosis with neuroaxonal dysplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Infantile osteopetrosis with neuroaxonal dysplasia syndrome	Finding site	Entire corpus callosum	false	Inferred relationship	Some	3
Infantile osteopetrosis with neuroaxonal dysplasia syndrome	Finding site	Entire corpus callosum	true	Inferred relationship	Some	2

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

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3437863010	Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3437864016	Infantile osteopetrosis with neuroaxonal dysplasia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3437865015	Infantile osteopetrosis with neuroaxonal dysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3437866019	This syndrome has characteristics of osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus. It has been described in a brother and a sister born to nonconsanguineous Caucasian parents. The children died at the ages of 1 and 9 months, respectively. Several additional cases combining axonal dystrophy and osteopetrosis have been described.	en	Definition	Active	Case sensitive	SNOMED CT core