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50855007: Juvenile hemochromatosis (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
84743011 Juvenile hemochromatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
495799017 Juvenile haemochromatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
788689013 Juvenile hemochromatosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4643576013 Haemochromatosis type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4643577016 Hemochromatosis type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4643578014 The early-onset and most severe form of hereditary hemochromatosis a group of diseases characterized by excessive tissue iron deposition of genetic origin. This juvenile form of hemochromatosis has the classical features of HH but is also characterized by severe cardiomyopathy and hypogonadism. Arthropathy, hepatic fibrosis, glucose intolerance, and increased skin pigmentation are frequent. Two types of the disease have been described, both being transmitted in an autosomal recessive way. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4643579018 The early-onset and most severe form of hereditary haemochromatosis a group of diseases characterised by excessive tissue iron deposition of genetic origin. This juvenile form of haemochromatosis has the classical features of HH but is also characterised by severe cardiomyopathy and hypogonadism. Arthropathy, hepatic fibrosis, glucose intolerance, and increased skin pigmentation are frequent. Two types of the disease have been described, both being transmitted in an autosomal recessive way. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
84743011 Juvenile hemochromatosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
84743011 Juvenile hemochromatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
495799017 Juvenile haemochromatosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
495799017 Juvenile haemochromatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
788689013 Juvenile hemochromatosis (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
788689013 Juvenile hemochromatosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4643576013 Haemochromatosis type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4643577016 Hemochromatosis type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4643578014 The early-onset and most severe form of hereditary hemochromatosis a group of diseases characterized by excessive tissue iron deposition of genetic origin. This juvenile form of hemochromatosis has the classical features of HH but is also characterized by severe cardiomyopathy and hypogonadism. Arthropathy, hepatic fibrosis, glucose intolerance, and increased skin pigmentation are frequent. Two types of the disease have been described, both being transmitted in an autosomal recessive way. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4643579018 The early-onset and most severe form of hereditary haemochromatosis a group of diseases characterised by excessive tissue iron deposition of genetic origin. This juvenile form of haemochromatosis has the classical features of HH but is also characterised by severe cardiomyopathy and hypogonadism. Arthropathy, hepatic fibrosis, glucose intolerance, and increased skin pigmentation are frequent. Two types of the disease have been described, both being transmitted in an autosomal recessive way. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
652821000274117 Juvenile Hämochromatose de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3447841001000110 Hämochromatose Typ 2 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4555951000241112 hémochromatose juvénile fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4555951000241112 hémochromatose juvénile fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
652821000274117 Juvenile Hämochromatose de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3447841001000110 Hämochromatose Typ 2 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Juvenile hemochromatosis Is a Hemochromatosis false Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile hemochromatosis Finding site Liver structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile hemochromatosis Causative agent (attribute) Iron (substance) false Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile hemochromatosis Occurrence Childhood false Inferred relationship Existential restriction modifier (core metadata concept) 2
Juvenile hemochromatosis Is a Hemochromatosis (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile hemochromatosis Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile hemochromatosis Causative agent (attribute) Iron AND/OR iron compound false Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile hemochromatosis Causative agent (attribute) Iron and/or iron compound (substance) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Juvenile hemochromatosis Is a Hereditary hemochromatosis true Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile hemochromatosis Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile hemochromatosis Is a Degenerative disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile hemochromatosis Occurrence Childhood true Inferred relationship Existential restriction modifier (core metadata concept) 1
Juvenile hemochromatosis Associated morphology Deposition of iron (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Type 2A juvenile hereditary hemochromatosis Is a True Juvenile hemochromatosis Inferred relationship Existential restriction modifier (core metadata concept)
Type 2B juvenile hereditary hemochromatosis Is a True Juvenile hemochromatosis Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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