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721846006: Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3324747010 Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3324748017 Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome en Synonym Active Case insensitive SNOMED CT core
3326240013 4H syndrome en Synonym Active Initial character case insensitive SNOMED CT core
3326241012 A syndrome with the association of demyelinating leukodystrophy and progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia. It has been diagnosed in four unrelated patients. These symptoms suggest the association of a myelination defect (of the central and peripheral nervous systems) with an endocrinal deficiency of the pituitary gland. en Definition Active Case sensitive SNOMED CT core
3326242017 A syndrome with the association of demyelinating leucodystrophy and progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia. It has been diagnosed in four unrelated patients. These symptoms suggest the association of a myelination defect (of the central and peripheral nervous systems) with an endocrinal deficiency of the pituitary gland. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Pathological process Pathological developmental process false Inferred relationship Some 2
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Pathological process Pathological developmental process false Inferred relationship Some 1
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Finding site Entire tooth false Inferred relationship Some 1
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Pathological process Pathological developmental process true Inferred relationship Some 5
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Associated morphology Congenital absence false Inferred relationship Some 1
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Finding site Gonadal endocrine structure false Inferred relationship Some 4
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Occurrence Congenital false Inferred relationship Some 4
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Pathological process Pathological developmental process false Inferred relationship Some 4
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Is a Hereditary degenerative disease of central nervous system false Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Associated morphology Absence true Inferred relationship Some 1
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Is a Developmental absence of tooth false Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Finding site Tooth structure true Inferred relationship Some 1
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Finding site Tooth structure true Inferred relationship Some 5
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Is a Congenital absence of jaw false Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Is a Congenital absence of mouth false Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Is a 4H leucodystrophy true Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Is a Chronic disease of teeth AND/OR supporting structures true Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Is a Chronic disease of genitourinary system true Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Is a Hereditary ataxia true Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Is a Chronic brain syndrome true Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Is a Cerebellar ataxia true Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Clinical course Progressive true Inferred relationship Some 4
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Finding site Cerebellar structure true Inferred relationship Some 2
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Finding site Gonadal endocrine structure true Inferred relationship Some 7
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Finding site Structure of distal part of pituitary true Inferred relationship Some 8
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Is a Anodontia false Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Is a Hypogonadotropic hypogonadism false Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Is a Partial congenital absence of teeth true Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Is a Leucodystrophy false Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Is a Hereditary disorder of endocrine system false Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Is a Reproductive system hereditary disorder false Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Finding site Structure of distal part of pituitary false Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Finding site Gonadal endocrine structure false Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Associated morphology Congenital absence false Inferred relationship Some 5
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Occurrence Congenital true Inferred relationship Some 5
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Finding site Entire tooth false Inferred relationship Some 5
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Associated morphology Congenital abnormal number true Inferred relationship Some 5
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Associated morphology Congenital abnormal number false Inferred relationship Some 7
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Occurrence Congenital false Inferred relationship Some 7
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Finding site Entire tooth false Inferred relationship Some 7
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Associated morphology Dystrophy true Inferred relationship Some 6
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Associated morphology Myelin sheath alteration false Inferred relationship Some 6
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Finding site Structure of nervous system false Inferred relationship Some 6
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Is a Congenital hypogonadotropic hypogonadism false Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Occurrence Congenital true Inferred relationship Some 1
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Occurrence Congenital false Inferred relationship Some 2
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Finding site Structure of distal part of pituitary false Inferred relationship Some 2
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Finding site Structure of distal part of pituitary false Inferred relationship Some 1
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Finding site Gonadal endocrine structure false Inferred relationship Some 2
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Is a Hereditary disorder of nervous system false Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Finding site White matter structure of brain and spinal cord true Inferred relationship Some 6
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Associated morphology Myelin sheath alteration true Inferred relationship Some 3
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Finding site Myelinated nerve fibre structure true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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