Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3703539016 | ANE syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3703540019 | Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3703541015 | ANE (alopecia, progressive neurological defect, endocrinopathy) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3703542010 | Alopecia, progressive neurological defect, endocrinopathy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3703543017 | A rare genetic neuro-endocrino-cutaneous disorder with characteristics of highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, microcephaly and kyphoscoliosis. There is evidence the disease is caused by homozygous mutation in the RBM28 gene on chromosome 7q32. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) | morphologie associée (attribut) | Absence (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) | est un(e) (attribut) | Congenital alopecia | true | Inferred relationship | Some | ||
| Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) | est un(e) (attribut) | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
| Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) | est un(e) (attribut) | Congenital hypogonadotropic hypogonadism (disorder) | true | Inferred relationship | Some | ||
| Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) | morphologie associée (attribut) | Congenital absence | false | Inferred relationship | Some | 1 | |
| Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
| Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) | localisation d'une constatation (attribut) | Hair structure (body structure) | true | Inferred relationship | Some | 1 | |
| Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) | localisation d'une constatation (attribut) | Gonadal endocrine structure | true | Inferred relationship | Some | 3 | |
| Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) | localisation d'une constatation (attribut) | Structure of pars distalis of pituitary (body structure) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR