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723508002: RAS-associated autoimmune leukoproliferative disease (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
3424876017 RAS-associated autoimmune leukoproliferative disease (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424877014 RAS-associated autoimmune leukoproliferative disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424878016 RAS-associated autoimmune leucoproliferative disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424879012 Autoimmune lymphoproliferative syndrome type 4 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424880010 Autoimmune lymphoproliferative syndrome type IV en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3424881014 RALD - RAS-associated autoimmune leukoproliferative disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424882019 RALD - RAS-associated autoimmune leucoproliferative disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403095014 RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403096010 RAS-associated autoimmune leucoproliferative disease (RALD) is a rare genetic disorder characterised by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinaemia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424876017 RAS-associated autoimmune leukoproliferative disease (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424877014 RAS-associated autoimmune leukoproliferative disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424878016 RAS-associated autoimmune leucoproliferative disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424879012 Autoimmune lymphoproliferative syndrome type 4 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424880010 Autoimmune lymphoproliferative syndrome type IV en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3424881014 RALD - RAS-associated autoimmune leukoproliferative disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424882019 RALD - RAS-associated autoimmune leucoproliferative disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424883012 An extremely rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia. Age of onset of the clinical signs is invariably in infancy or early childhood. Most patients have atypical features such as elevated counts for cells of myeloid origin (monocytosis and granulocytosis) making their clinical presentation indistinguishable from juvenile myelomonocytic leukemia. Caused by somatic mutations in the NRAS (1p13.2) and KRAS (12p12.1) genes encoding RAS proteins involved in regulating cell proliferation causing impairment of the intrinsic apoptosis pathway. The pattern of inheritance is not known. RAS mutations are considered somatic and limited to the circulating peripheral blood mononuclear cells. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424884018 An extremely rare genetic disorder characterised by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinaemia. Age of onset of the clinical signs is invariably in infancy or early childhood. Most patients have atypical features such as elevated counts for cells of myeloid origin (monocytosis and granulocytosis) making their clinical presentation indistinguishable from juvenile myelomonocytic leukaemia. Caused by somatic mutations in the NRAS (1p13.2) and KRAS (12p12.1) genes encoding RAS proteins involved in regulating cell proliferation causing impairment of the intrinsic apoptosis pathway. The pattern of inheritance is not known. RAS mutations are considered somatic and limited to the circulating peripheral blood mononuclear cells. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403095014 RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403096010 RAS-associated autoimmune leucoproliferative disease (RALD) is a rare genetic disorder characterised by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinaemia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3408401001000116 RAS-assoziierte autoimmun-lymphoproliferative Krankheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
933451000172110 maladie leucoproliférative auto-immune associée à RAS fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
947801000172115 RALD - RAS-associated autoimmune leukoproliferative disease fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
933451000172110 maladie leucoproliférative auto-immune associée à RAS fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
947801000172115 RALD - RAS-associated autoimmune leukoproliferative disease fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3408401001000116 RAS-assoziierte autoimmun-lymphoproliferative Krankheit 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
RAS-associated autoimmune leukoproliferative disease (disorder) Due to Chromosomal disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept) 2
RAS-associated autoimmune leukoproliferative disease (disorder) Is a Autoimmune disease true Inferred relationship Existential restriction modifier (core metadata concept)
RAS-associated autoimmune leukoproliferative disease (disorder) Is a Immunodeficiency associated with chromosomal abnormality true Inferred relationship Existential restriction modifier (core metadata concept)
RAS-associated autoimmune leukoproliferative disease (disorder) Is a Lymphoproliferative disorder true Inferred relationship Existential restriction modifier (core metadata concept)
RAS-associated autoimmune leukoproliferative disease (disorder) Is a Hereditary cancer-predisposing syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
RAS-associated autoimmune leukoproliferative disease (disorder) Has definitional manifestation Immune system finding false Inferred relationship Existential restriction modifier (core metadata concept)
RAS-associated autoimmune leukoproliferative disease (disorder) Associated morphology Lymphoproliferative disorder true Inferred relationship Existential restriction modifier (core metadata concept) 4
RAS-associated autoimmune leukoproliferative disease (disorder) Pathological process (attribute) Autoimmune process true Inferred relationship Existential restriction modifier (core metadata concept) 4
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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