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782823001: Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3756077015 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3756078013 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3756079017 A rare inherited cancer-predisposing syndrome with characteristics of early development of cutaneous telangiectasia, mild dental and nail anomalies, patchy alopecia over the affected skin areas and increased lifetime risk for oropharyngeal cancer. Other types of cancer have also been reported. There is evidence the disease is caused by heterozygous mutation in the ATR gene on chromosome 3q23. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3756077015 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3756078013 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3756079017 A rare inherited cancer-predisposing syndrome with characteristics of early development of cutaneous telangiectasia, mild dental and nail anomalies, patchy alopecia over the affected skin areas and increased lifetime risk for oropharyngeal cancer. Other types of cancer have also been reported. There is evidence the disease is caused by heterozygous mutation in the ATR gene on chromosome 3q23. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3412511001000117 Familiäre kutane Telangiektasie-Oropharyngealer Krebs-Prädispositionssyndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5590801000241113 télangiectasie cutanée familiale et syndrome de prédisposition au cancer oropharyngé fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5590801000241113 télangiectasie cutanée familiale et syndrome de prédisposition au cancer oropharyngé fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3412511001000117 Familiäre kutane Telangiektasie-Oropharyngealer Krebs-Prädispositionssyndrom 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
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) Associated morphology Telangiectasis true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) Finding site Microscopic skin vascular structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) Is a Telangiectasia disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) Is a Familial disease true Inferred relationship Existential restriction modifier (core metadata concept)
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) Is a Hereditary cancer-predisposing syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) Is a Telangiectasia of skin (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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