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698953004: Inherited aminoaciduria (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Feb 2025. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2981569019 Inherited aminoaciduria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2981621014 Inherited aminoaciduria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2981569019 Inherited aminoaciduria en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2981569019 Inherited aminoaciduria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2981621014 Inherited aminoaciduria (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2981621014 Inherited aminoaciduria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6315201000241115 aminoacidurie héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6315201000241115 aminoacidurie héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Inherited aminoaciduria (disorder) Is a Hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
Inherited aminoaciduria (disorder) Is a Aminoaciduria true Inferred relationship Existential restriction modifier (core metadata concept)
Inherited aminoaciduria (disorder) Is a Hereditary metabolic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Inherited aminoaciduria (disorder) Interprets Urine observable true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inherited aminoaciduria (disorder) Interprets Measurement of amino acid in urine true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inherited aminoaciduria (disorder) Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Benign neonatal hyperaminoaciduria Is a False Inherited aminoaciduria (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Dicarboxylic aminoaciduria syndrome (disorder) Is a True Inherited aminoaciduria (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly taurinuria syndrome (disorder) Is a True Inherited aminoaciduria (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of aminoacylase 1 (disorder) Is a True Inherited aminoaciduria (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Chorea due to inherited aminoaciduria (disorder) Due to True Inherited aminoaciduria (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2

This concept is not in any reference sets

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