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) |
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