702411003: Pleuropulmonary blastoma family tumor susceptibility syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary cancer-predisposing syndrome\DICER1 syndrome

\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\DICER1 syndrome

\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\DICER1 syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2995043010 DICER1 syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2995121017 Pleuropulmonary blastoma familial tumor and dysplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2995213015 Pleuropulmonary blastoma family tumor susceptibility syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2995527014 Pleuropulmonary blastoma family tumor susceptibility syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2995664013 Pleuropulmonary blastoma familial tumour and dysplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2995766016 Pleuropulmonary blastoma family tumour susceptibility syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

940401000172119 syndrome de susceptibilité familiale au blastome pleuropulmonaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

957381000172116 PPBFTDS - pleuropulmonary blastoma familial tumor susceptibility syndrome fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
DICER1 syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
DICER1 syndrome	Is a	Familial multiple tumor syndrome	false	Inferred relationship	Some
DICER1 syndrome	Associated morphology	Neoplasm	true	Inferred relationship	Some	1
DICER1 syndrome	Is a	Neoplastic disease	true	Inferred relationship	Some
DICER1 syndrome	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets