raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:616874

Rare disorder without a determined diagnosis after full investigation

Synonyms: Fully investigated rare disorder without a determined diagnosis

Type
Disease
Group
Disorder
Inheritance
Not applicable
Status
active

A rare disorder for which all reasonable efforts have been done by rare diseases experts to determine a diagnosis according to the state of the art and available diagnostic capabilities, but did not enable to conclude on a clinically known concept. It is recommended to restrict the use of this entity for coding purposes to rare disease experts.

1

Names in Orphadata languages

10 of 12 languages
LangNameSynonyms
enRare disorder without a determined diagnosis after full investigationFully investigated rare disorder without a determined diagnosis
frMaladie rare sans diagnostic déterminé après investigation complète
deSeltene Störung ohne eindeutige Diagnose nach vollständiger UntersuchungVollständig untersuchte seltene Erkrankung ohne eindeutige Diagnose
esTrastorno raro sin un diagnóstico determinado tras una investigación completaTrastorno raro completamente investigado sin un diagnóstico determinado
itMalattia rara senza diagnosi dopo indagini approfonditeMalattia rara esaminata a fondo priva di diagnosi · Malattia rara non diagnosticata dopo indagini approfondite
nlZeldzame aandoening zonder gestelde diagnose na volledig onderzoekVolledig onderzochte zeldzame aandoening zonder vastgestelde diagnose
ptDoença rara sem diagnóstico definitivo após investigação abrangenteDoença rara com investigação extensiva sem um diagnóstico conclusivo
plRzadkie zaburzenie bez ustalonej diagnozy po pełnym badaniuW pełni zbadane rzadkie zaburzenie bez ustalonej diagnozy
csVzácné onemocnění bez stanovené diagnózy po úplném vyšetřeníPlně vyšetřené vzácné onemocnění bez stanovené diagnózy
ukРідкісний розлад без встановленого діагнозу після повного обстеженняПовністю досліджений рідкісний розлад без встановленого діагнозу

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation

No cross-references in this release.

3

Classification

Parents in the classifications (1):

No children.

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card