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733601006: Congenital disorder of glycosylation type 1q (disorder)


Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3499660017 Congenital disorder of glycosylation type 1q (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3499661018 SRD5A3-CDG - steroid 5 alpha-reductase 3 congenital disorder of glycosylation en Synonym Active Case sensitive SNOMED CT core
3499662013 Congenital disorder of glycosylation type 1q en Synonym Active Case insensitive SNOMED CT core
3499663015 Congenital disorder of glycosylation type Iq en Synonym Active Initial character case insensitive SNOMED CT core
3500033011 A rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency with a highly variable phenotype. The disease typically presents with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation. Caused by homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
SRD5A3-CDG - steroid 5 alpha-reductase 3 congenital disorder of glycosylation Is a Autosomal recessive hereditary disorder true Inferred relationship Some
SRD5A3-CDG - steroid 5 alpha-reductase 3 congenital disorder of glycosylation Is a Carbohydrate-deficient glycoprotein syndrome type I true Inferred relationship Some
SRD5A3-CDG - steroid 5 alpha-reductase 3 congenital disorder of glycosylation Occurrence Congenital true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Unit of use size reference set

Description inactivation indicator reference set

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