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764095005: Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3646023013 Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3646024019 Ataxia, delayed dentition, hypomyelination syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3646025018 Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3646026017 Syndrome with characteristics of ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far eight cases have been described. There is evidence that the disease is caused by homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Is a Congenital disease (disorder) false Inferred relationship Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Is a Leucodystrophy false Inferred relationship Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Is a Cerebral atrophy true Inferred relationship Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Is a Hereditary ataxia (disorder) true Inferred relationship Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Associated morphology Dystrophy true Inferred relationship Some 3
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Associated morphology Myelin sheath alteration true Inferred relationship Some 2
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Associated morphology Atrophy true Inferred relationship Some 1
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Finding site Cerebrum true Inferred relationship Some 1
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Occurrence Congenital false Inferred relationship Some 1
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Is a Hereditary disorder of nervous system false Inferred relationship Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Finding site White matter structure of brain and spinal cord (body structure) true Inferred relationship Some 3
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Finding site Myelinated nerve fiber structure true Inferred relationship Some 2
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Is a Hereditary degenerative disease of central nervous system false Inferred relationship Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Is a 4H leukodystrophy (disorder) true Inferred relationship Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Is a Malformation of tooth (disorder) true Inferred relationship Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Is a Late tooth eruption true Inferred relationship Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Finding site Gonadal endocrine structure true Inferred relationship Some 5
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Finding site Structure of pars distalis of pituitary (body structure) true Inferred relationship Some 6
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Finding site Tooth structure true Inferred relationship Some 4
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Associated morphology Maturation deceleration true Inferred relationship Some 4
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Interprets Eruption of tooth true Inferred relationship Some 7
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Has interpretation Abnormal true Inferred relationship Some 7

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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