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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
6396921000241111 syndrome d'ataxie, retard de dentition et hypomyélinisation fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6396931000241113 syndrome de leucoencéphalopathie, ataxie, hypodontie et hypomyélinisation fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3420771001000113 Leukoenzephalopathie-Ataxie-Hypodontie-Hypomyelinisierung-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Is a Congenital disease 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 The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica. 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 A rare hypomyelinating leukodystrophy disorder characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms. 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 distal part of pituitary 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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US English

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