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 |
| 1000801000172115 | syndrome d'insuffisance hypophysaire multiple non acquise-surdité neurosensorielle-anomalies de la colonne vertébrale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3705578019 | Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3705579010 | Non-acquired combined pituitary hormone deficiency, deafness, rigid cervical spine syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3705580013 | Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 770551000241117 | syndrome d'insuffisance hypophysaire multiple non acquise-surdité neurosensorielle-anomalies de la colonne vertébrale (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 977131000172117 | syndrome d'insuffisance hypophysaire multiple non acquise, surdité de perception, anomalie de rotation du cou | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3705581012 | A rare genetic non-acquired combined pituitary hormone deficiency disorder with characteristics of panhypopituitarism (with or without adrenocorticotropic hormone deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated. There is evidence this disease is caused by homozygous mutation in the LHX3 gene on chromosome 9q34. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| syndrome d'insuffisance hypophysaire multiple non acquise-surdité neurosensorielle-anomalies de la colonne vertébrale | est un(e) (attribut) | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| syndrome d'insuffisance hypophysaire multiple non acquise-surdité neurosensorielle-anomalies de la colonne vertébrale | localisation d'une constatation (attribut) | Structure of vertebral column (body structure) | true | Inferred relationship | Some | 1 | |
| syndrome d'insuffisance hypophysaire multiple non acquise-surdité neurosensorielle-anomalies de la colonne vertébrale | localisation d'une constatation (attribut) | structure du système auditif | true | Inferred relationship | Some | 3 | |
| syndrome d'insuffisance hypophysaire multiple non acquise-surdité neurosensorielle-anomalies de la colonne vertébrale | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| syndrome d'insuffisance hypophysaire multiple non acquise-surdité neurosensorielle-anomalies de la colonne vertébrale | est un(e) (attribut) | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| syndrome d'insuffisance hypophysaire multiple non acquise-surdité neurosensorielle-anomalies de la colonne vertébrale | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| syndrome d'insuffisance hypophysaire multiple non acquise-surdité neurosensorielle-anomalies de la colonne vertébrale | est un(e) (attribut) | affection du rachis | true | Inferred relationship | Some | ||
| syndrome d'insuffisance hypophysaire multiple non acquise-surdité neurosensorielle-anomalies de la colonne vertébrale | localisation d'une constatation (attribut) | Adenohypophysis structure | true | Inferred relationship | Some | 2 | |
| syndrome d'insuffisance hypophysaire multiple non acquise-surdité neurosensorielle-anomalies de la colonne vertébrale | est un(e) (attribut) | Sensorineural hearing loss | true | Inferred relationship | Some | ||
| syndrome d'insuffisance hypophysaire multiple non acquise-surdité neurosensorielle-anomalies de la colonne vertébrale | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| syndrome d'insuffisance hypophysaire multiple non acquise-surdité neurosensorielle-anomalies de la colonne vertébrale | est un(e) (attribut) | panhypopituitarisme | true | Inferred relationship | Some | ||
| syndrome d'insuffisance hypophysaire multiple non acquise-surdité neurosensorielle-anomalies de la colonne vertébrale | interprète (attribut) | Hearing, function (observable entity) | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR