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

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


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3324748017 Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3326240013 4H syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
12696781000172110 syndrome 4H fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
12696791000172113 syndrome d'hypomyélinisation, hypogonadisme hypogonadotrope et hypodontie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
5140461000172119 syndroom van hypomyelinisatie, hypogonadotroop hypogonadisme en hypodontie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start