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764946008: Constitutional mismatch repair deficiency syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3655711013 Constitutional mismatch repair deficiency syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3655712018 CMMR-D (constitutional mismatch repair deficiency) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3655713011 Constitutional mismatch repair deficiency syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404416011 Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (e.g., café-au-lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polyps) are frequently present before malignancy development. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404417019 Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterised by the development of a broad spectrum of malignancies during childhood, including mainly brain, haematological and gastrointestinal cancers, although embryonic and other tumours have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (e.g., café-au-lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polyps) are frequently present before malignancy development. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3655711013 Constitutional mismatch repair deficiency syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3655712018 CMMR-D (constitutional mismatch repair deficiency) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3655713011 Constitutional mismatch repair deficiency syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3657274010 A rare inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (for example cafe au lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polyps) are frequently present before malignancy development. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3657275011 A rare inherited cancer-predisposing syndrome characterised by the development of a broad spectrum of malignancies during childhood, including mainly brain, haematological and gastrointestinal cancers, although embryonic and other tumours have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (for example cafe au lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polyps) are frequently present before malignancy development. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404416011 Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (e.g., café-au-lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polyps) are frequently present before malignancy development. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404417019 Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterised by the development of a broad spectrum of malignancies during childhood, including mainly brain, haematological and gastrointestinal cancers, although embryonic and other tumours have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (e.g., café-au-lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polyps) are frequently present before malignancy development. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3387381001000111 Mismatch-Reparatur-Defizienz-Syndrom, konstitutionelles de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
984101000172112 syndrome de déficit constitutionnel de la réparation des mésappariements fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
984101000172112 syndrome de déficit constitutionnel de la réparation des mésappariements fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3387381001000111 Mismatch-Reparatur-Defizienz-Syndrom, konstitutionelles de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Constitutional mismatch repair deficiency syndrome (disorder) Due to Chromosomal disorder (disorder) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Constitutional mismatch repair deficiency syndrome (disorder) Is a Congenital immunodeficiency disease false Inferred relationship Existential restriction modifier (core metadata concept)
Constitutional mismatch repair deficiency syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Constitutional mismatch repair deficiency syndrome (disorder) Is a Immunodeficiency associated with chromosomal abnormality false Inferred relationship Existential restriction modifier (core metadata concept)
Constitutional mismatch repair deficiency syndrome (disorder) Is a Hereditary disorder of immune system false Inferred relationship Existential restriction modifier (core metadata concept)
Constitutional mismatch repair deficiency syndrome (disorder) Is a Disorder of immune structure false Inferred relationship Existential restriction modifier (core metadata concept)
Constitutional mismatch repair deficiency syndrome (disorder) Is a Hereditary cancer-predisposing syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Constitutional mismatch repair deficiency syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
Constitutional mismatch repair deficiency syndrome (disorder) Finding site Structure of immune system (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Constitutional mismatch repair deficiency syndrome (disorder) Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Constitutional mismatch repair deficiency syndrome (disorder) Is a Primary immune deficiency disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal recessive hyperimmunoglobulin M syndrome due to MSH6 deficiency Is a True Constitutional mismatch repair deficiency syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Constitutional mismatch repair deficiency syndrome due to PMS1 homolog 2, mismatch repair system component mutation (disorder) Is a True Constitutional mismatch repair deficiency syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

Reference Sets

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

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