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255399007: Congenital (qualifier value)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
380599019 Congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
380598010 Congenital en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
380598010 Congenital en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
380599019 Congenita en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
380599019 Congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital Is a Fetal and/or neonatal period true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
Mayer Rokitansky Küster Hauser syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Mayer Rokitansky Küster Hauser syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Mayer Rokitansky Küster Hauser syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
Oculogastrointestinal neurodevelopmental syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, Leber congenital amaurosis syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, Leber congenital amaurosis syndrome (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 2
Renal tubulopathy with encephalopathy and liver failure syndrome Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
2p21 microdeletion syndrome without cystinuria (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3
2p21 microdeletion syndrome without cystinuria (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 4
Hydroxymethylglutaric aciduria (disorder) Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to impaired synthesis of dopamine, noradrenaline, adrenaline and serotonin. Clinical manifestations are typically characterized by early-onset muscular hypotonia, movement disorders (oculogyric crisis, dystonia), developmental delay, ptosis and non-motor symptoms (sleep disturbance, irritability, excessive sweating, and nasal congestion). Occurrence True Congenital Inferred relationship Existential restriction modifier (core metadata concept) 3

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