FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.24  |  FHIR Version n/a  User: [n/a]

733450008: Carbohydrate deficient glycoprotein syndrome type 2 due to deficiency of mannosidase alpha class 1B member 1 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3499448014 Carbohydrate deficient glycoprotein syndrome type 2 due to deficiency of mannosidase alpha class 1B member 1 en Synonym Active Only initial character case insensitive SNOMED CT core module
3499449018 MAN1B1-CDG - mannosidase alpha class 1B member 1 deficiency congenital disorder of glycosylation en Synonym Active Entire term case sensitive SNOMED CT core module
3499450018 Carbohydrate deficient glycoprotein syndrome type 2 due to deficiency of mannosidase alpha class 1B member 1 (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
3499451019 Congenital disorder of glycosylation type II due to MAN1B1 deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module
3499452014 Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Carbohydrate deficient glycoprotein syndrome type 2 due to deficiency of mannosidase alpha class 1B member 1 Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Carbohydrate deficient glycoprotein syndrome type 2 due to deficiency of mannosidase alpha class 1B member 1 Is a Carbohydrate-deficient glycoprotein syndrome type II true Inferred relationship Existential restriction modifier
Carbohydrate deficient glycoprotein syndrome type 2 due to deficiency of mannosidase alpha class 1B member 1 Occurrence Congenital true Inferred relationship Existential restriction modifier 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start