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 |
| 3323363010 | Short stature due to primary acid labile subunit deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3323364016 | Short stature due to primary acid labile subunit deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 756891000241112 | petite taille par déficit primaire en sous-unité acide labile (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 875251000172117 | petite taille par déficit primaire en sous-unité acide labile | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3323369014 | Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3) and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity. Less than 10 cases have been reported in the literature so far. It is caused by homozygous inactivating mutations of the ALS gene (IGFALS; 16p13.3). Primary ALS deficiency is inherited in an autosomal recessive manner. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3323370010 | Short stature due to primary acid-labile subunit (ALS) deficiency is characterised by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3) and hyperinsulinaemia, in the absence of growth hormone (GH) deficiency or GH insensitivity. Less than 10 cases have been reported in the literature so far. It is caused by homozygous inactivating mutations of the ALS gene (IGFALS; 16p13.3). Primary ALS deficiency is inherited in an autosomal recessive manner. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Short stature due to primary acid labile subunit deficiency (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Short stature due to primary acid labile subunit deficiency (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Short stature due to primary acid labile subunit deficiency (disorder) | interprète (attribut) | Height / growth measure | true | Inferred relationship | Some | 2 | |
| Short stature due to primary acid labile subunit deficiency (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Short stature due to primary acid labile subunit deficiency (disorder) | est un(e) (attribut) | insuffisance staturale | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR