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297252005: Glycogen phosphorylase kinase deficiency, autosomal recessive (disorder)


Status: current. Date: 31-Jan 2002

Descriptions:

Id Description Lang Type Status Case? Module
437741015 Glycogen phosphorylase kinase deficiency, autosomal recessive en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
692563010 Glycogen phosphorylase kinase deficiency, autosomal recessive (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


3 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Glycogen phosphorylase kinase deficiency, autosomal recessive Is a Glycogen phosphorylase kinase deficiency true Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Glycogen phosphorylase kinase deficiency, autosomal recessive Occurrence Congenital true Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1
Glycogen phosphorylase kinase deficiency, autosomal recessive Finding site Liver structure true Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Hepatic glycogen phosphorylase kinase deficiency Is a True Glycogen phosphorylase kinase deficiency, autosomal recessive Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Cardiac glycogen phosphorylase kinase deficiency Is a True Glycogen phosphorylase kinase deficiency, autosomal recessive Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly
Hepatic and muscle glycogen phosphorylase kinase deficiency Is a True Glycogen phosphorylase kinase deficiency, autosomal recessive Congenital syphilitic hepatomegaly Congenital syphilitic hepatomegaly

This concept is not in any reference sets

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