Previous group Next group

Diagnosis

Items in this group
Diagnosis CR  PR 

ORPHAcode of the clinical diagnosis. The value must be a string including the prefix ORPHA:, e.g. ORPHA:70 for SMA or ORPHA:83330 for SMA type 1. When disease-specific registries map data to the sNMD dataset, this item should generally be mapped automatically. For instance, if a registry only collects data on patients with Duchenne muscular dystrophy, this item should automatically have the value ORPHA:98896 for all individuals.

For individuals without an established diagnosis, the value ORPHA:616874 should be used as described in the definition of the ORPHAcode. This code must not be used to code patients throughout their diagnostic pathway or for diseases that are not yet available in the Orphanet classification. For more information on this code, see the website of the RD-CODE project.

If Genetic confirmation is Carrier, or Symptom onset is Asymptomatic, this value refers to the genetic diagnosis.

Item type: restricted text
Diagnosis date CR  PR 

Date on which the individual received the diagnosis.

This item refers to the diagnosis specified in Diagnosis. If Genetic confirmation is Yes or Carrier, the value should be the date of the (first) genetic report confirming the diagnosis. The value may be collected as only a year.

Item type: date
Usage in other datasets: DMD
Genetic confirmation CR  PR 

Specifies whether the diagnosis has been genetically confirmed. If the genetic test results are pending, the value must be No.

This item refers to the diagnosis specified in the item Diagnosis. If the permissible values Not applicable and Carrier are not applicable in a registry, this item may be collected as a yes/no item.

Item type: single selection
Consistency rules:

Genetic confirmation must have the value Not applicable if and only if Diagnosis is the ORPHAcode of an acquired disease or is ORPHA:616874. Genetic confirmation may have the value Carrier only if Diagnosis is the ORPHAcode of a recessive genetic disease. Genetic confirmation may have the values Yes or No only if Diagnosis is the ORPHAcode of a genetic disease. If Symptom onset is Asymptomatic, Genetic confirmation must not have the value No, since these individuals are outside the scope of the dataset. If Symptom onset is Asymptomatic, Genetic confirmation must not have the value Not applicable, since the latter value is only valid in the case of a clinical diagnosis, for which signs or symptoms are a prerequisite.

Value ID Description
Yes

The individual has a genetic disease which has been confirmed by genetic testing of the individual
No

The individual has a suspected genetic disease, but the diagnosis has not (yet) been confirmed by genetic testing of the individual
Carrier

The individual is heterozygous for a recessive genetic disease; either the individual has been genetically tested, or they are an obligate carrier
Not applicable

The individual has an acquired disease, or no diagnosis has been established yet
Gene CR  PR 

HGNC gene symbol (e.g. SMN1) of the causative gene for the individual's neuromuscular condition or carrier status specified in Diagnosis. In many cases, registries will not need to collect this value explicitly, but can map it from the diagnosis.

Item type: restricted text
Consistency rules:

A value may only be provided if Genetic confirmation is Yes or Carrier, otherwise it must be unspecified.

Previous group Next group