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


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
3330001012 Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3330002017 Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5402756010 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5402757018 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis 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 Entire term case sensitive (core metadata concept) 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 (disorder) Is a Fibrosis of lung true Inferred relationship Some
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) Is a Pure gonadal dysgenesis 46,XX true Inferred relationship Some
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) Is a Autosomal recessive severe combined immunodeficiency disease (disorder) true Inferred relationship Some
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) Is a Reproductive system hereditary disorder true Inferred relationship Some
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) Has definitional manifestation Immune system finding false Inferred relationship Some
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) Associated morphology Fibrosis false Inferred relationship Some 3
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) Finding site Lung structure false Inferred relationship Some 3
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 4
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) Finding site Ovarian endocrine structure false Inferred relationship Some 4
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) Finding site Ovarian endocrine structure true Inferred relationship Some 3
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) Has interpretation Decreased true Inferred relationship Some 1
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) Interprets Hormone secretion true Inferred relationship Some 1
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) Occurrence Congenital false Inferred relationship Some 2
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) Is a Congenital anomaly of lung false Inferred relationship Some
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) Associated morphology Fibrosis true Inferred relationship Some 2
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) Finding site Lung structure true Inferred relationship Some 2
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 4
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) Is a T-cell negative B-cell positive severe combined immunodeficiency (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

GB English

US English

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