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1208933000: 4H leukodystrophy (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5013614018 4H leukodystrophy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5013615017 4H leucodystrophy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5013616016 4H leukodystrophy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5013617013 POLR-related leucodystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5013618015 POLR-related leukodystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399878013 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399879017 A rare hypomyelinating leucodystrophy disorder characterised by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leucodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


3 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
4H leukodystrophy (disorder) Is a Hereditary degenerative disease of central nervous system true Inferred relationship Some
4H leukodystrophy (disorder) Is a Leucodystrophy true Inferred relationship Some
4H leukodystrophy (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
4H leukodystrophy (disorder) Finding site Myelinated nerve fiber structure true Inferred relationship Some 1
4H leukodystrophy (disorder) Associated morphology Myelin sheath alteration true Inferred relationship Some 1
4H leukodystrophy (disorder) Finding site White matter structure of brain and spinal cord (body structure) true Inferred relationship Some 2
4H leukodystrophy (disorder) Associated morphology Dystrophy true Inferred relationship Some 2
4H leukodystrophy (disorder) Is a Hereditary disorder of tooth true Inferred relationship Some
4H leukodystrophy (disorder) Is a Hypogonadotropic hypogonadism true Inferred relationship Some
4H leukodystrophy (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
4H leukodystrophy (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
4H leukodystrophy (disorder) Is a Reproductive system hereditary disorder true Inferred relationship Some
4H leukodystrophy (disorder) Is a Disorder of tooth development (disorder) true Inferred relationship Some
4H leukodystrophy (disorder) Finding site Structure of pars distalis of pituitary (body structure) true Inferred relationship Some 4
4H leukodystrophy (disorder) Finding site Gonadal endocrine structure true Inferred relationship Some 5
4H leukodystrophy (disorder) Finding site Tooth structure true Inferred relationship Some 3
4H leukodystrophy (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group
Odontoleukodystrophy (disorder) Is a True 4H leukodystrophy (disorder) Inferred relationship Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Is a True 4H leukodystrophy (disorder) Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Is a True 4H leukodystrophy (disorder) Inferred relationship Some

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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