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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
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
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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (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
3423801001000116 Lungenfibrose - Immundefekt - Gonadendysgenesie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
982131000172112 syndrome de fibrose pulmonaire-déficit immunitaire-dysgénésie gonadique 46,XX fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
982131000172112 syndrome de fibrose pulmonaire-déficit immunitaire-dysgénésie gonadique 46,XX fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3423801001000116 Lungenfibrose - Immundefekt - Gonadendysgenesie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Is a Fibrosis of lung true Inferred relationship Existential restriction modifier (core metadata concept)
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Is a Pure gonadal dysgenesis 46,XX true Inferred relationship Existential restriction modifier (core metadata concept)
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Is a Autosomal recessive SCID (severe combined immunodeficiency disease) true Inferred relationship Existential restriction modifier (core metadata concept)
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Is a Reproductive system hereditary disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Has definitional manifestation Immune system finding false Inferred relationship Existential restriction modifier (core metadata concept)
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Associated morphology Fibrosis (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Finding site Lung structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Finding site Ovarian endocrine structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Finding site Ovarian endocrine structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Has interpretation Decreased true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Interprets Hormone secretion true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Is a Congenital anomaly of lung false Inferred relationship Existential restriction modifier (core metadata concept)
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Associated morphology Fibrosis (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Finding site Lung structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Is a A group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial, or fungal infections, diarrhea and failure to thrive. true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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