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Enum: PrevalenceClassEnum

Coarse, always-fillable band for the MAGNITUDE of a disease-occurrence rate — the population-rate analog of the HPO-style FrequencyEnum used for phenotype frequency.

IMPORTANT: a band reports magnitude only. It does not say what is being measured; the sibling measure_type slot does that, and a band is meaningless without it. BAND_1_9_PER_100000 on a POINT_PREVALENCE record means "1-9 of every 100,000 people have this disease"; the same band on an ANNUAL_INCIDENCE record means "1-9 new cases per 100,000 per year"; on a CARRIER_FREQUENCY record it describes carriers, who do not have the disease at all. Never read, compare, aggregate, or render a band without reading measure_type alongside it. rate_denominator pins the denominator explicitly and should be preferred by consumers where present.

The five numeric bands are aligned to the Orphanet prevalence classes, so Orphanet-sourced prevalence records (and the ICEES/ORPHA structured sources) map across directly; on a non-prevalence measure the same boundaries are read purely as magnitude.

The qualitative tiers are NOT magnitude bands. COMMON/RARE/ULTRA_RARE are each defined by a prevalence threshold and each presuppose that the source gave no numeric estimate. They are therefore INVALID on the two measures that are definitely not prevalence — ANNUAL_INCIDENCE and CARRIER_FREQUENCY — and should not sit alongside a populated rate_per_100000. They remain correct on the prevalence measures, on CASES_IN_LITERATURE, and on UNKNOWN, which is the ordinary prose-only case: a source that says only "rare" without naming its measure.

When a numeric estimate exists, also populate rate_per_100000 (or rate_low/rate_high); the band is the queryable summary, the rate carries the precision.

URI: dismech:enum/PrevalenceClassEnum

Permissible Values

Value Meaning Description Additional Info
ABOVE_1_IN_1000 None More than 100 per 100,000, in whatever denominator measure_type specifies Title: >1 / 1,000
BAND_1_5_PER_10000 None 10-99 per 100,000 (1-9 per 10,000), in whatever denominator measure_type sp... Title: 1-9 / 10,000
BAND_1_9_PER_100000 None 1-9 per 100,000, in whatever denominator measure_type specifies Title: 1-9 / 100,000
BAND_1_9_PER_1000000 None 0 Title: 1-9 / 1,000,000
BELOW_1_IN_1000000 None Fewer than 0 Title: <1 / 1,000,000
COMMON None Qualitative tier for disorders described as common/endemic with no numeric es... Title: Common
RARE None Qualitative tier for disorders described as "rare" in the source without a nu... Title: Rare
ULTRA_RARE None Qualitative tier for disorders described as ultra-rare / only a handful of re... Title: Ultra-rare
NOT_YET_DOCUMENTED None Source states that the measure is not yet documented Title: Not yet documented
UNKNOWN None The magnitude is unknown or not stated for whatever measure_type reports Title: Unknown

Slots

Name Description
prevalence_class Coarse occurrence band (Orphanet prevalence class or qualitative tier) — the ...

Identifier and Mapping Information

Schema Source

  • from schema: https://w3id.org/monarch-initiative/dismech

LinkML Source

name: PrevalenceClassEnum
description: 'Coarse, always-fillable band for the MAGNITUDE of a disease-occurrence
  rate — the population-rate analog of the HPO-style FrequencyEnum used for phenotype
  frequency.

  IMPORTANT: a band reports magnitude only. It does not say what is being measured;
  the sibling `measure_type` slot does that, and a band is meaningless without it.
  `BAND_1_9_PER_100000` on a POINT_PREVALENCE record means "1-9 of every 100,000 people
  have this disease"; the same band on an ANNUAL_INCIDENCE record means "1-9 new cases
  per 100,000 per year"; on a CARRIER_FREQUENCY record it describes carriers, who
  do not have the disease at all. Never read, compare, aggregate, or render a band
  without reading `measure_type` alongside it. `rate_denominator` pins the denominator
  explicitly and should be preferred by consumers where present.

  The five numeric bands are aligned to the Orphanet prevalence classes, so Orphanet-sourced
  prevalence records (and the ICEES/ORPHA structured sources) map across directly;
  on a non-prevalence measure the same boundaries are read purely as magnitude.

  The qualitative tiers are NOT magnitude bands. COMMON/RARE/ULTRA_RARE are each defined
  by a prevalence threshold and each presuppose that the source gave no numeric estimate.
  They are therefore INVALID on the two measures that are definitely not prevalence
  — ANNUAL_INCIDENCE and CARRIER_FREQUENCY — and should not sit alongside a populated
  `rate_per_100000`. They remain correct on the prevalence measures, on CASES_IN_LITERATURE,
  and on UNKNOWN, which is the ordinary prose-only case: a source that says only "rare"
  without naming its measure.

  When a numeric estimate exists, also populate rate_per_100000 (or rate_low/rate_high);
  the band is the queryable summary, the rate carries the precision.'
from_schema: https://w3id.org/monarch-initiative/dismech
rank: 1000
permissible_values:
  ABOVE_1_IN_1000:
    text: ABOVE_1_IN_1000
    description: More than 100 per 100,000, in whatever denominator `measure_type`
      specifies. Boundary aligned to the Orphanet >1/1,000 prevalence class.
    title: '>1 / 1,000'
  BAND_1_5_PER_10000:
    text: BAND_1_5_PER_10000
    description: 10-99 per 100,000 (1-9 per 10,000), in whatever denominator `measure_type`
      specifies. Combines the Orphanet 1-5 and 6-9 per 10,000 classes into one decade-spanning
      band, matching the other per-decade bands and the _band_from_rate() boundaries.
    title: 1-9 / 10,000
  BAND_1_9_PER_100000:
    text: BAND_1_9_PER_100000
    description: 1-9 per 100,000, in whatever denominator `measure_type` specifies.
      Boundary aligned to the Orphanet 1-9/100,000 prevalence class.
    title: 1-9 / 100,000
  BAND_1_9_PER_1000000:
    text: BAND_1_9_PER_1000000
    description: 0.1-0.9 per 100,000 (1-9 per 1,000,000), in whatever denominator
      `measure_type` specifies. Boundary aligned to the Orphanet 1-9/1,000,000 prevalence
      class.
    title: 1-9 / 1,000,000
  BELOW_1_IN_1000000:
    text: BELOW_1_IN_1000000
    description: Fewer than 0.1 per 100,000 (less than 1 per 1,000,000), in whatever
      denominator `measure_type` specifies. Boundary aligned to the Orphanet <1/1,000,000
      prevalence class.
    title: <1 / 1,000,000
  COMMON:
    text: COMMON
    description: Qualitative tier for disorders described as common/endemic with no
      numeric estimate captured. Roughly corresponds to the >1/1,000 region but asserted
      only qualitatively. Invalid on measure_type ANNUAL_INCIDENCE or CARRIER_FREQUENCY,
      and should not sit alongside a populated rate_per_100000.
    title: Common
  RARE:
    text: RARE
    description: Qualitative tier for disorders described as "rare" in the source
      without a numeric estimate (the EU rare-disease threshold is <1 in 2,000). Invalid
      on measure_type ANNUAL_INCIDENCE or CARRIER_FREQUENCY, and should not sit alongside
      a populated rate_per_100000.
    title: Rare
  ULTRA_RARE:
    text: ULTRA_RARE
    description: Qualitative tier for disorders described as ultra-rare / only a handful
      of reported cases, with no population rate available. Often paired with measure_type
      CASES_IN_LITERATURE. Invalid on measure_type ANNUAL_INCIDENCE or CARRIER_FREQUENCY,
      and should not sit alongside a populated rate_per_100000.
    title: Ultra-rare
  NOT_YET_DOCUMENTED:
    text: NOT_YET_DOCUMENTED
    description: Source states that the measure is not yet documented. Orphanet class;
      applies to whatever `measure_type` reports, not to prevalence alone.
    title: Not yet documented
    aliases:
    - Not yet documented
  UNKNOWN:
    text: UNKNOWN
    description: The magnitude is unknown or not stated for whatever `measure_type`
      reports.
    title: Unknown