Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3756684010 | Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3756685011 | Familial adrenal hypoplasia with absent pituitary luteinizing hormone | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3756686012 | Familial adrenal hypoplasia with absent pituitary luteinising hormone | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3756687015 | Familial adrenal hypoplasia miniature type | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3756688013 | A rare endocrine disease characterized by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organization), selective absence of pituitary luteinizing hormone in otherwise normal brain and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3756689017 | A rare endocrine disease characterised by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organisation), selective absence of pituitary luteinising hormone in otherwise normal brain and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycaemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | est un(e) (attribut) | Congenital hypoplasia of adrenal gland | true | Inferred relationship | Some | ||
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | est un(e) (attribut) | Familial disease | true | Inferred relationship | Some | ||
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | est un(e) (attribut) | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | est un(e) (attribut) | Congenital hypogonadotropic hypogonadism (disorder) | true | Inferred relationship | Some | ||
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | est un(e) (attribut) | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | est un(e) (attribut) | Hormone level - finding | true | Inferred relationship | Some | ||
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | est un(e) (attribut) | Abnormal pituitary luteinizing hormone (finding) | true | Inferred relationship | Some | ||
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | interprète (attribut) | Luteinizing hormone measurement | true | Inferred relationship | Some | 4 | |
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | morphologie associée (attribut) | Hypoplasia (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | localisation d'une constatation (attribut) | cortex surrénalien | true | Inferred relationship | Some | 1 | |
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | localisation d'une constatation (attribut) | Structure of pars distalis of pituitary (body structure) | true | Inferred relationship | Some | 3 | |
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | a pour interprétation (attribut) | Absent | true | Inferred relationship | Some | 4 | |
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | localisation d'une constatation (attribut) | Gonadal endocrine structure | true | Inferred relationship | Some | 2 | |
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | interprète (attribut) | entité observable endocrinienne | true | Inferred relationship | Some | 5 | |
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR