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721977007: Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3330001012 Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
3330002017 Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome en Synonym Active Initial character case insensitive SNOMED CT core
3330007011 This syndrome is characterized by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies. en Definition Active Case sensitive SNOMED CT core
3330008018 This syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridisation analysis of their genomes or by analysis of genes known to be associated with these types of anomalies. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Occurrence Congenital true Inferred relationship Some 2
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Is a Congenital anomaly of lung true Inferred relationship Some
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Associated morphology Fibrosis true Inferred relationship Some 2
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 3
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Finding site Lung structure true Inferred relationship Some 2
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Pathological process Abnormal immune process true Inferred relationship Some 4
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Is a Pulmonary fibrosis true Inferred relationship Some
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Is a Pure gonadal dysgenesis 46,XX true Inferred relationship Some
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Is a Autosomal recessive SCID (severe combined immunodeficiency disease) true Inferred relationship Some
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Is a Hereditary disorder of endocrine system true Inferred relationship Some
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Is a Reproductive system hereditary disorder true Inferred relationship Some
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Has definitional manifestation Immune system finding false Inferred relationship Some
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Associated morphology Fibrosis false Inferred relationship Some 3
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Occurrence Congenital true Inferred relationship Some 3
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Finding site Lung structure false Inferred relationship Some 3
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Associated morphology Developmental abnormality false Inferred relationship Some 4
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Occurrence Congenital false Inferred relationship Some 4
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Finding site Ovarian endocrine structure false Inferred relationship Some 4
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Finding site Ovarian endocrine structure true Inferred relationship Some 3
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Has interpretation Decreased true Inferred relationship Some 1
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Interprets Hormone secretion true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Respiratory finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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