FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

1899006: Autosomal hereditary disorder (disorder)

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
4277013 Autosomal hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
746648015 Autosomal hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3429 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal hereditary disorder Is a Hereditary disease true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Long QT syndrome type 4 (disorder) Is a False Autosomal hereditary disorder Inferred relationship Some
Long QT syndrome type 5 (disorder) Is a False Autosomal hereditary disorder Inferred relationship Some
Long QT syndrome type 2 (disorder) Is a False Autosomal hereditary disorder Inferred relationship Some
Ketoacidosis due to monocarboxylate transporter-1 deficiency (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
L-ferritin deficiency (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Waardenburg Shah syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Myopathic Ehlers-Danlos syndrome (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Hereditary von Willebrand disease Is a True Autosomal hereditary disorder Inferred relationship Some
Myosin storage myopathy (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Aicardi Goutieres syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Benign recurrent intrahepatic cholestasis Is a True Autosomal hereditary disorder Inferred relationship Some
Hypermobile Ehlers-Danlos syndrome (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Vascular Ehlers-Danlos syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Autosomal hereditary arginine vasopressin resistance (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Intermediate collagen VI-related muscular dystrophy (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Combined immunodeficiency due to IKZF2 mutation Is a True Autosomal hereditary disorder Inferred relationship Some
Hereditary factor I deficiency disease Is a True Autosomal hereditary disorder Inferred relationship Some

Start Page 2 of 2

This concept is not in any reference sets

Back to Start