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4887000: Hypertyrosinemia, Richner-Hanhart type (disorder)


Status: current, Necessary but not sufficient concept definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
9136018 Hypertyrosinemia, Richner-Hanhart type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core US English: Preferred (foundation metadata concept)
9137010 Tyrosine transaminase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
9138017 Oculocutaneous tyrosinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core US English: Acceptable (foundation metadata concept)
9139013 Richner-Hanhart syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
9141014 Hereditary hypertyrosinemia, type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core US English: Acceptable (foundation metadata concept)
9142019 Hypertyrosinemia, Oregon type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core US English: Acceptable (foundation metadata concept)
9143012 Keratosis palmoplantaris with corneal dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
9144018 Persistent hypertyrosinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core US English: Acceptable (foundation metadata concept)
9145017 Richner syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
9146016 Tyrosinemia without hepatorenal dysfunction en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core US English: Acceptable (foundation metadata concept)
495230016 Hereditary hypertyrosinaemia, type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
495231017 Hypertyrosinaemia, Oregon type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
495232012 Tyrosinemia type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core US English: Acceptable (foundation metadata concept)
495233019 Oculocutaneous tyrosinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
495234013 Tyrosinaemia type II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
495235014 Hypertyrosinaemia, Richner-Hanhart type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core Concept inactivation indicator reference set: Duplicate component (foundation metadata concept)
495236010 Persistent hypertyrosinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
495237018 Tyrosinaemia without hepatorenal dysfunction en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
786485019 Hypertyrosinemia, Richner-Hanhart type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3035469016 Tyrosinaemia type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3035539013 Tyrosinemia type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core US English: Acceptable (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypertyrosinemia, Richner-Hanhart type Is a Enzymopathy true Inferred relationship Some
Hypertyrosinemia, Richner-Hanhart type Is a Hypertyrosinemia true Inferred relationship Some
Hypertyrosinemia, Richner-Hanhart type Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Hypertyrosinemia, Richner-Hanhart type Occurrence Congenital true Inferred relationship Some
Hypertyrosinemia, Richner-Hanhart type Finding site Body system structure false Inferred relationship Some
Hypertyrosinemia, Richner-Hanhart type Associated morphology Hyperkeratosis true Inferred relationship Some
Hypertyrosinemia, Richner-Hanhart type Is a Inborn error of metabolism true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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