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) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | Is a | Congenital hypoplasia of adrenal gland | true | Inferred relationship | Some | ||
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | Is a | Familial disease | true | Inferred relationship | Some | ||
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | Is a | Congenital hypogonadotropic hypogonadism (disorder) | true | Inferred relationship | Some | ||
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | Is a | Hormone level - finding | false | Inferred relationship | Some | ||
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | Is a | Abnormal pituitary luteinizing hormone (finding) | true | Inferred relationship | Some | ||
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | Interprets | Luteinizing hormone measurement | true | Inferred relationship | Some | 4 | |
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 1 | |
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | Finding site | Adrenal cortex structure | true | Inferred relationship | Some | 1 | |
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | Finding site | Structure of pars distalis of pituitary (body structure) | true | Inferred relationship | Some | 3 | |
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | Has interpretation | 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) | Finding site | Gonadal endocrine structure | true | Inferred relationship | Some | 2 | |
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | Interprets | Endocrine observable | true | Inferred relationship | Some | 5 | |
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | Is a | Gonadotrophin level - finding | true | Inferred relationship | Some | ||
| Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) | Is a | Measurement procedure result absent | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR