FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.10 | FHIR Version n/a User: [n/a]

1208933000: 4H leukodystrophy (disorder)

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

\Digestive system finding (finding)\Finding of mouth region (finding)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\4H leukodystrophy (disorder)
\Digestive system finding (finding)\Finding of mouth region (finding)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\4H leukodystrophy (disorder)
\Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding (finding)\Tooth finding\Tooth disorder\Hereditary disorder of tooth\4H leukodystrophy (disorder)
\Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding (finding)\Tooth finding\Tooth disorder\Disorder of tooth development (disorder)\4H leukodystrophy (disorder)
\Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding (finding)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\4H leukodystrophy (disorder)
\Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding (finding)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\4H leukodystrophy (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Hereditary disorder of tooth\4H leukodystrophy (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\4H leukodystrophy (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\4H leukodystrophy (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Tooth disorder\Hereditary disorder of tooth\4H leukodystrophy (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive organ (disorder)\Tooth disorder\Disorder of tooth development (disorder)\4H leukodystrophy (disorder)

\Neurological lesion\Leucodystrophy\4H leukodystrophy (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\4H leukodystrophy (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\4H leukodystrophy (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\4H leukodystrophy (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\4H leukodystrophy (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Leucodystrophy\4H leukodystrophy (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\4H leukodystrophy (disorder)

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

\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\...

\Hypopituitarism\Hypogonadotropic hypogonadism\4H leukodystrophy (disorder)

\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\4H leukodystrophy (disorder)

\Finding of head region\Finding of mouth region (finding)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\4H leukodystrophy (disorder)
\Finding of head region\Finding of mouth region (finding)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\4H leukodystrophy (disorder)
\Finding of head region\Finding of mouth region (finding)\Oral cavity finding (finding)\Tooth finding\Tooth disorder\Hereditary disorder of tooth\4H leukodystrophy (disorder)
\Finding of head region\Finding of mouth region (finding)\Oral cavity finding (finding)\Tooth finding\Tooth disorder\Disorder of tooth development (disorder)\4H leukodystrophy (disorder)
\Finding of head region\Finding of mouth region (finding)\Oral cavity finding (finding)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\4H leukodystrophy (disorder)
\Finding of head region\Finding of mouth region (finding)\Oral cavity finding (finding)\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\4H leukodystrophy (disorder)
\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\4H leukodystrophy (disorder)
\Finding of head region\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\4H leukodystrophy (disorder)

\Disorder of head (disorder)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\4H leukodystrophy (disorder)
\Disorder of head (disorder)\Disease of mouth\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\4H leukodystrophy (disorder)
\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\4H leukodystrophy (disorder)
\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\4H leukodystrophy (disorder)
\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\4H leukodystrophy (disorder)
\Disorder of head (disorder)\Disorder of jaw\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\4H leukodystrophy (disorder)

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

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

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

This concept is not in any reference sets

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
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