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65327002: mucopolysacharidose type 1H (aandoening)


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
108537017 Mucopolysaccharidosis, MPS-I-H en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
108538010 L-iduronidase deficiency, Hurler type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
108539019 Lipochondrodystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
108540017 Gargoylism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
108541018 Hurler's syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
108542013 Hurler-Pfaundler syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
108543015 Dysostosis multiplex syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
500079013 MPS 1-H - Mucopolysaccharidosis type I-H en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
500080011 Mucopolysaccharidosis type I-H en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
500081010 Hurler disease MPS type 1H en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
500082015 Mucopolysaccharidosis type I severe form en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2971529014 Mucopolysaccharidosis type I-H (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2374351000146118 ziekte van Hurler nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
2374421000146115 MPS1H nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
4376641000146113 mucopolysacharidose type 1H (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
4376651000146111 mucopolysacharidose type 1H nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10294721000146117 Erfelijke stofwisselingsziekte gekenmerkt door stijve gewrichten, aangetaste hersenen en een grof gezicht; lijkt op het syndroom van Scheie, maar is ernstiger vorm van mucopolysacharidose. nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mucopolysaccharidosis, MPS-I-H Is a Mucopolysaccharidosis, MPS-I true Inferred relationship Some
Mucopolysaccharidosis, MPS-I-H Severity Severe false Inferred relationship Some
Mucopolysaccharidosis, MPS-I-H Finding site Body system structure false Inferred relationship Some
Mucopolysaccharidosis, MPS-I-H Occurrence Congenital true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

GB English

US English

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