Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3425685011 | Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3425686012 | Sex reversion, kidney, adrenal and lung dysgenesis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3425687015 | SERKAL syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3780965012 | SERKAL (sex reversion, kidney, adrenal and lung dysgenesis) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3425689017 | Syndrome that has characteristics of female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. The syndrome is lethal and has been described in three fetuses. It is caused by homozygous missense mutations in the WNT4 gene. It is transmitted as an autosomal recessive trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 3 | |
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 4 | |
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | localisation d'une constatation (attribut) | Gonadal structure | true | Inferred relationship | Some | 2 | |
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | localisation d'une constatation (attribut) | glande suprarénale | true | Inferred relationship | Some | 1 | |
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | localisation d'une constatation (attribut) | structure d'un poumon | true | Inferred relationship | Some | 3 | |
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | est un(e) (attribut) | anomalie congénitale des reins | true | Inferred relationship | Some | ||
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | est un(e) (attribut) | anomalie congénitale du poumon | true | Inferred relationship | Some | ||
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of adrenal gland | true | Inferred relationship | Some | ||
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | est un(e) (attribut) | Gonadal dysgenesis | true | Inferred relationship | Some | ||
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | est un(e) (attribut) | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | est un(e) (attribut) | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 4 | |
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 5 | |
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 6 | |
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 7 | |
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 7 | |
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | localisation d'une constatation (attribut) | structure d'un rein | true | Inferred relationship | Some | 4 | |
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | localisation d'une constatation (attribut) | structure d'un poumon | false | Inferred relationship | Some | 4 | |
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | localisation d'une constatation (attribut) | glande suprarénale | false | Inferred relationship | Some | 7 | |
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | localisation d'une constatation (attribut) | Gonadal structure | false | Inferred relationship | Some | 5 | |
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) | localisation d'une constatation (attribut) | structure d'un rein | false | Inferred relationship | Some | 6 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets