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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
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 Is a Hereditary disease false Inferred relationship Some
Inherited aminoaciduria Is a Aminoaciduria (finding) true Inferred relationship Some
Inherited aminoaciduria Is a Hereditary metabolic disease true Inferred relationship Some
Inherited aminoaciduria Interprets Urine observable true Inferred relationship Some 1
Inherited aminoaciduria Interprets Measurement of amino acid in urine true Inferred relationship Some 2
Inherited aminoaciduria Has interpretation Above reference range true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Benign neonatal hyperaminoaciduria Is a False Inherited aminoaciduria Inferred relationship Some
A rare autosomal recessive inborn error of metabolism characterized by increased urinary excretion of dicarboxylic amino acids, glutamate and aspartate, that can be associated with kidney stones and neuropsychiatric manifestations. Is a True Inherited aminoaciduria Inferred relationship Some
A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966. Is a True Inherited aminoaciduria Inferred relationship Some
Deficiency of aminoacylase 1 (disorder) Is a True Inherited aminoaciduria Inferred relationship Some
Chorea due to inherited aminoaciduria (disorder) Due to True Inherited aminoaciduria Inferred relationship Some 2

This concept is not in any reference sets

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