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726106004: X-linked diffuse leiomyomatosis with Alport syndrome (disorder)

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
3448200017 X-linked diffuse leiomyomatosis with Alport syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3448201018 X-linked diffuse leiomyomatosis with Alport syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3448202013 X-linked diffuse leiomyomatosis, Alport syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403533011 A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403534017 A rare renal disease characterised by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnoea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3448200017 X-linked diffuse leiomyomatosis with Alport syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3448201018 X-linked diffuse leiomyomatosis with Alport syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3448202013 X-linked diffuse leiomyomatosis, Alport syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3448203015 The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families. The disease is due to a deletion involving the 5' terminal region of both COL4A5 and COL4A6 (as such, it forms a contiguous gene syndrome). Only the first two exons of COL4A6 are deleted but the extent of COL4A5 gene deletion is variable. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3448204014 The association of X-linked Alport syndrome with leiomyomatosis of the oesophagus, tracheobronchial tree or female genitals has been reported in more than 30 families. The disease is due to a deletion involving the 5' terminal region of both COL4A5 and COL4A6 (as such, it forms a contiguous gene syndrome). Only the first two exons of COL4A6 are deleted but the extent of COL4A5 gene deletion is variable. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403533011 A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403534017 A rare renal disease characterised by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnoea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3426721001000110 X-chromosomales Alport-Syndrom - diffuse Leiomyomatose de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
902471000172118 syndrome d'Alport lié à l'X-léiomyomatose diffuse fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
958461000172119 microdélétion Xq22.3 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
902471000172118 syndrome d'Alport lié à l'X-léiomyomatose diffuse fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
958461000172119 microdélétion Xq22.3 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3426721001000110 X-chromosomales Alport-Syndrom - diffuse Leiomyomatose 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
X-linked diffuse leiomyomatosis with Alport syndrome Is a Anomaly of chromosome X true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked diffuse leiomyomatosis with Alport syndrome Is a Neoplastic disease of uncertain behavior true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked diffuse leiomyomatosis with Alport syndrome Is a Congenital nephritis true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked diffuse leiomyomatosis with Alport syndrome Is a Alport syndrome X-linked (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
X-linked diffuse leiomyomatosis with Alport syndrome Associated morphology inflammation chronique false Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked diffuse leiomyomatosis with Alport syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked diffuse leiomyomatosis with Alport syndrome Finding site Glomerulus structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
X-linked diffuse leiomyomatosis with Alport syndrome Associated morphology Deletion of long arm true Inferred relationship Existential restriction modifier (core metadata concept) 4
X-linked diffuse leiomyomatosis with Alport syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
X-linked diffuse leiomyomatosis with Alport syndrome Finding site Sex chromosome X (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
X-linked diffuse leiomyomatosis with Alport syndrome Associated morphology Leiomyomatosis, no International Classification of Diseases for Oncology subtype false Inferred relationship Existential restriction modifier (core metadata concept) 5
X-linked diffuse leiomyomatosis with Alport syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
X-linked diffuse leiomyomatosis with Alport syndrome Is a Congenital hearing disorder false Inferred relationship Existential restriction modifier (core metadata concept)
X-linked diffuse leiomyomatosis with Alport syndrome Finding site Structure of auditory system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked diffuse leiomyomatosis with Alport syndrome Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked diffuse leiomyomatosis with Alport syndrome Associated morphology Leiomyomatosis true Inferred relationship Existential restriction modifier (core metadata concept) 5
X-linked diffuse leiomyomatosis with Alport syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked diffuse leiomyomatosis with Alport syndrome Associated morphology Chronic inflammatory morphology (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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