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764946008: Constitutional mismatch repair deficiency syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3655711013 Constitutional mismatch repair deficiency syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3655712018 CMMR-D (constitutional mismatch repair deficiency) syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3655713011 Constitutional mismatch repair deficiency syndrome en Synonym Active Entire term case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Constitutional mismatch repair deficiency syndrome Due to Chromosomal disorder true Inferred relationship Existential restriction modifier 2
Constitutional mismatch repair deficiency syndrome Is a Congenital immunodeficiency disease true Inferred relationship Existential restriction modifier
Constitutional mismatch repair deficiency syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Constitutional mismatch repair deficiency syndrome Is a Immunodeficiency associated with chromosomal abnormality true Inferred relationship Existential restriction modifier
Constitutional mismatch repair deficiency syndrome Is a Hereditary disorder of immune system true Inferred relationship Existential restriction modifier
Constitutional mismatch repair deficiency syndrome Is a Disorder of immune structure true Inferred relationship Existential restriction modifier
Constitutional mismatch repair deficiency syndrome Is a Hereditary cancer-predisposing syndrome true Inferred relationship Existential restriction modifier
Constitutional mismatch repair deficiency syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Constitutional mismatch repair deficiency syndrome Finding site Structure of immune system true Inferred relationship Existential restriction modifier 1
Constitutional mismatch repair deficiency syndrome Pathological process Abnormal immune process true Inferred relationship Existential restriction modifier 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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