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277893002: Carbohydrate-deficient glycoprotein syndrome type I (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
414626014 Carbohydrate-deficient glycoprotein syndrome type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
414627017 CDG - Carbohydrate-deficient glycoprotein syndrome type I en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
670983015 Carbohydrate-deficient glycoprotein syndrome type I (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
414626014 Carbohydrate-deficient glycoprotein syndrome type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
414627017 CDG - Carbohydrate-deficient glycoprotein syndrome type I en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
670983015 Carbohydrate-deficient glycoprotein syndrome type I (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5783411000241116 syndrome des glycoprotéines déficientes en hydrates de carbone de type 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5783421000241111 syndrome des glycoprotéines déficientes en glucides de type 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5783431000241113 syndrome CDG (congenital disorders of glycosylation) de type I fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5783411000241116 syndrome des glycoprotéines déficientes en hydrates de carbone de type 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5783421000241111 syndrome des glycoprotéines déficientes en glucides de type 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5783431000241113 syndrome CDG (congenital disorders of glycosylation) de type I fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

25 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Carbohydrate-deficient glycoprotein syndrome type I Is a Carbohydrate-deficient glycoprotein syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Carbohydrate-deficient glycoprotein syndrome type I Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Carbohydrate-deficient glycoprotein syndrome type I Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital disorder of glycosylation type Ia (disorder) Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier (core metadata concept)
Congenital disorder of glycosylation type 1c (disorder) Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier (core metadata concept)
ALG12-congenital disorder of glycosylation (disorder) Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier (core metadata concept)
Carbohydrate deficient glycoprotein syndrome type 1m (disorder) Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier (core metadata concept)
Asparagine-linked glycosylation 1 congenital disorder of glycosylation (disorder) Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier (core metadata concept)
ALG3 congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier (core metadata concept)
Asparagine-linked glycosylation 8 congenital disorder of glycosylation (disorder) Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier (core metadata concept)
ALG9 congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier (core metadata concept)
Carbohydrate deficient glycoprotein syndrome type 1o (disorder) Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier (core metadata concept)
Congenital disorder of glycosylation type 1f Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier (core metadata concept)
Congenital disorder of glycosylation type 1e (disorder) Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier (core metadata concept)
Congenital disorder of glycosylation type 1j Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier (core metadata concept)
Congenital disorder of glycosylation type 1r (disorder) Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier (core metadata concept)
Congenital disorder of glycosylation type 1n (disorder) Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier (core metadata concept)
Congenital disorder of glycosylation type 1p Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier (core metadata concept)
Congenital disorder of glycosylation type 1s Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier (core metadata concept)
Congenital disorder of glycosylation type 1w Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier (core metadata concept)
STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterised by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1). Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier (core metadata concept)
Congenital disorder of glycosylation type 1y Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier (core metadata concept)
Congenital disorder of glycosylation type 1q Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier (core metadata concept)
A rare fatal inborn error of metabolism disorder with characteristics of respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic facies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34. Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier (core metadata concept)
PGM1-related congenital disorder of glycosylation Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier (core metadata concept)
Congenital disorder of glycosylation type 1i Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier (core metadata concept)
Mannosephosphate isomerase congenital disorder of glycosylation (disorder) Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier (core metadata concept)
A rare congenital disorder of glycosylation caused by mutations in the CAD gene and characterized by epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood. Is a True Carbohydrate-deficient glycoprotein syndrome type I Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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