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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 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) | localisation d'une constatation (attribut) | 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) | morphologie associée (attribut) | Congenital absence | false | Inferred relationship | Some | 1 | |
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | localisation d'une constatation (attribut) | Gonadal endocrine structure | false | Inferred relationship | Some | 4 | |
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | survenue (attribut) | congénital | 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) | est un(e) (attribut) | Hereditary degenerative disease of central nervous system | false | Inferred relationship | Some | ||
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | morphologie associée (attribut) | Absence (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | est un(e) (attribut) | Developmental absence of tooth (disorder) | false | Inferred relationship | Some | ||
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | localisation d'une constatation (attribut) | dent (structure corporelle) | true | Inferred relationship | Some | 1 | |
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | localisation d'une constatation (attribut) | dent (structure corporelle) | true | Inferred relationship | Some | 5 | |
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | est un(e) (attribut) | Congenital absence of jaw | false | Inferred relationship | Some | ||
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | est un(e) (attribut) | Congenital absence of mouth | false | Inferred relationship | Some | ||
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | est un(e) (attribut) | 4H leukodystrophy (disorder) | true | Inferred relationship | Some | ||
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | est un(e) (attribut) | Chronic disease of teeth AND/OR supporting structures | true | Inferred relationship | Some | ||
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | est un(e) (attribut) | maladie chronique de l'appareil génito-urinaire | true | Inferred relationship | Some | ||
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | est un(e) (attribut) | Hereditary ataxia (disorder) | true | Inferred relationship | Some | ||
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | est un(e) (attribut) | Chronic brain syndrome | true | Inferred relationship | Some | ||
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | est un(e) (attribut) | Cerebellar ataxia | true | Inferred relationship | Some | ||
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 4 | |
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | localisation d'une constatation (attribut) | structure cérébelleuse | true | Inferred relationship | Some | 2 | |
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | localisation d'une constatation (attribut) | Gonadal endocrine structure | true | Inferred relationship | Some | 7 | |
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | localisation d'une constatation (attribut) | Structure of pars distalis of pituitary (body structure) | true | Inferred relationship | Some | 8 | |
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | est un(e) (attribut) | anodontie | false | Inferred relationship | Some | ||
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | est un(e) (attribut) | hypogonadisme hypogonadotrope (trouble) | false | Inferred relationship | Some | ||
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | est un(e) (attribut) | Partial congenital absence of teeth | true | Inferred relationship | Some | ||
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | est un(e) (attribut) | Leukodystrophy | false | Inferred relationship | Some | ||
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of endocrine system (disorder) | false | Inferred relationship | Some | ||
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | est un(e) (attribut) | Reproductive system hereditary disorder | false | Inferred relationship | Some | ||
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | localisation d'une constatation (attribut) | Structure of pars distalis of pituitary (body structure) | false | Inferred relationship | Some | ||
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | localisation d'une constatation (attribut) | Gonadal endocrine structure | false | Inferred relationship | Some | ||
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | morphologie associée (attribut) | Congenital absence | false | Inferred relationship | Some | 5 | |
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 5 | |
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | localisation d'une constatation (attribut) | Entire tooth | false | Inferred relationship | Some | 5 | |
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | morphologie associée (attribut) | Congenital abnormal number | true | Inferred relationship | Some | 5 | |
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | morphologie associée (attribut) | Congenital abnormal number | false | Inferred relationship | Some | 7 | |
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 7 | |
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | localisation d'une constatation (attribut) | Entire tooth | false | Inferred relationship | Some | 7 | |
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | morphologie associée (attribut) | Dystrophy (morphologic abnormality) | true | Inferred relationship | Some | 6 | |
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | morphologie associée (attribut) | Myelin sheath alteration | false | Inferred relationship | Some | 6 | |
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | localisation d'une constatation (attribut) | système nerveux | false | Inferred relationship | Some | 6 | |
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | est un(e) (attribut) | Congenital hypogonadotropic hypogonadism (disorder) | false | Inferred relationship | Some | ||
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 2 | |
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | localisation d'une constatation (attribut) | Structure of pars distalis of pituitary (body structure) | false | Inferred relationship | Some | 2 | |
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | localisation d'une constatation (attribut) | Structure of pars distalis of pituitary (body structure) | false | Inferred relationship | Some | 1 | |
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | localisation d'une constatation (attribut) | Gonadal endocrine structure | false | Inferred relationship | Some | 2 | |
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | localisation d'une constatation (attribut) | White matter structure of brain and spinal cord (body structure) | true | Inferred relationship | Some | 6 | |
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | morphologie associée (attribut) | Myelin sheath alteration | true | Inferred relationship | Some | 3 | |
| Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) | localisation d'une constatation (attribut) | Myelinated nerve fiber structure | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR