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1208933000: 4H leukodystrophy (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of brain\Disorder of brain\Disorder of pituitary gland (disorder)\Hypopituitarism\Hypogonadotropic hypogonadism\4H leucodystrophy
\Head finding (finding)\Finding of brain\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\4H leucodystrophy
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\4H leucodystrophy
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development (disorder)\4H leucodystrophy
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy
\Head finding (finding)\Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\4H leucodystrophy
\Head finding (finding)\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy
\Head finding (finding)\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\4H leucodystrophy
\Head finding (finding)\Disorder of head (disorder)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy
\Head finding (finding)\Disorder of head (disorder)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\4H leucodystrophy
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Hypopituitarism\Hypogonadotropic hypogonadism\4H leucodystrophy
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\4H leucodystrophy
\Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy
\Head finding (finding)\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\4H leucodystrophy

\Neurological lesion\Leucodystrophy\4H leucodystrophy

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Reproductive system hereditary disorder (disorder)\4H leucodystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\4H leucodystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\4H leucodystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Hereditary disorder of tooth\4H leucodystrophy
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\4H leucodystrophy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\4H leucodystrophy
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\4H leucodystrophy
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\4H leucodystrophy
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Reproductive system hereditary disorder (disorder)\4H leucodystrophy
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\4H leucodystrophy
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\4H leucodystrophy
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Hereditary disorder of tooth\4H leucodystrophy
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of pituitary gland (disorder)\Hypopituitarism\Hypogonadotropic hypogonadism\4H leucodystrophy
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\4H leucodystrophy
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\4H leucodystrophy
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of endocrine gonad\Hypogonadism (disorder)\Hypogonadotropic hypogonadism\4H leucodystrophy
\Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Leucodystrophy\4H leucodystrophy
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\4H leucodystrophy
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Hypopituitarism\Hypogonadotropic hypogonadism\4H leucodystrophy
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\4H leucodystrophy
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Leucodystrophy\4H leucodystrophy
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\4H leucodystrophy
\Disease\Disorder of body system\Disease of digestive system (disorder)\Digestive system hereditary disorder\Hereditary disorder of tooth\4H leucodystrophy
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\4H leucodystrophy
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Tooth disorder\Disorder of tooth development (disorder)\4H leucodystrophy
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)\4H leucodystrophy
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Hypogonadotropic hypogonadism\4H leucodystrophy
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)\4H leucodystrophy
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism (disorder)\Hypogonadotropic hypogonadism\4H leucodystrophy
\Disease\Disorder of head (disorder)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy
\Disease\Disorder of head (disorder)\Disorder of mouth (disorder)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\4H leucodystrophy
\Disease\Disorder of head (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Hypopituitarism\Hypogonadotropic hypogonadism\4H leucodystrophy
\Disease\Disorder of head (disorder)\Disorder of brain\Disorder of pituitary gland (disorder)\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\4H leucodystrophy
\Disease\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\4H leucodystrophy
\Disease\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\4H leucodystrophy
\Disease\Developmental disorder (disorder)\Disorder of tooth development (disorder)\4H leucodystrophy
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\4H leucodystrophy

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

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

5013619011 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. Age of onset typically ranges from infancy to childhood but exceptionally may occur in late adolescence or early adulthood. Mutations of the genes encoding POLR3 (RNA polymerase III) subunits, POLR3A, POLR3B and POLR1C, have been identified. The disease is inherited in an autosomal recessive manner. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5013620017 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. Age of onset typically ranges from infancy to childhood but exceptionally may occur in late adolescence or early adulthood. Mutations of the genes encoding POLR3 (RNA polymerase III) subunits, POLR3A, POLR3B and POLR1C, have been identified. The disease is inherited in an autosomal recessive manner. en Definition 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

3423291001000112 4H-Leukodystrophie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3423291001000112 4H-Leukodystrophie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Disease with characteristics of progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive.	Is a	True	4H leucodystrophy	Inferred relationship	Existential restriction modifier (core metadata concept)
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)	Is a	True	4H leucodystrophy	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder)	Is a	True	4H leucodystrophy	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets

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

Back to Start

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
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
5013619011	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. Age of onset typically ranges from infancy to childhood but exceptionally may occur in late adolescence or early adulthood. Mutations of the genes encoding POLR3 (RNA polymerase III) subunits, POLR3A, POLR3B and POLR1C, have been identified. The disease is inherited in an autosomal recessive manner.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5013620017	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. Age of onset typically ranges from infancy to childhood but exceptionally may occur in late adolescence or early adulthood. Mutations of the genes encoding POLR3 (RNA polymerase III) subunits, POLR3A, POLR3B and POLR1C, have been identified. The disease is inherited in an autosomal recessive manner.	en	Definition	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
3423291001000112	4H-Leukodystrophie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3423291001000112	4H-Leukodystrophie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module