Placement of Congenital-Acquired Terms in MedDRA

(Updated 15 Apr 03)

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Problem: There are inconsistencies in the placement of congenital and acquired terms.

Purpose: The purpose of this document is to develop criteria for the placement of these terms.

Proposal for your review:

1. Rationale for the placement of congenital and acquired terms in MedDRA:

   In MedDRA, for those disorders, conditions, etc. that can occur as either “congenital” or “acquired” forms will be handled as followed: At the PT level, the term representing the less frequently occurring form of the disorder will be qualified by the appropriate modifier. For example, “Colour blindness acquired” and “Colour blindness” will appear as PTs with the non-modified version of the term, “Colour blindness”, assuming the “congenital” mapping (that is, a link to SOC Congenital, familial and genetic disorders).

   In other words, the non-modified variant of the term will represent and be mapped to the form of the disorder that is most frequently observed (either congenital or acquired), whereas the term representing the less frequently occurring form of the disorder will appear at the PT level carrying the modifier. This approach is also illustrated in the case of “renal cyst”. Renal cysts are most frequently observed to be an acquired condition; therefore, the non-modified PT “Renal cyst” will represent the acquired type in MedDRA. Another PT, “Congenital renal cyst”, clearly represents the congenital form of this disorder and, therefore, carries the modifier to represent the less frequently occurring condition.

2. In MedDRA, for the purposes of consistent term placement, the concept of “deformity” primarily refers to acquired musculoskeletal issues; if the condition is congenital, then it requires the appropriate qualifier.
   
   
3. In MedDRA, for the purposes of consistent term placement, concepts of “malformation” and “anomaly” are considered congenital in origin and therefore are assigned to the SOC Congenital, familial and genetic disorders with and/or without the qualifier congenital:

   Dorland’s definition: anomaly - marked deviation from the normal standard, especially as a result of congenital defects.

   Dorland’s definition: malformation 1. a type of anomaly. 2. a morphologic defect of an organ or larger region of the body, resulting from an intrinsically abnormal developmental process.

   However, there may be a few cases where anomaly or malformation terms are referring to acquired concepts. If so, the term needs the qualifier “acquired. Potential examples: acquired Pelger Huet anomaly, acquired color vision anomaly, acquired chromosomal anomaly, acquired Arnold Chiari malformation).

4. Malformation and anomaly are considered synonyms. For consistency, "malformation" is represented at the PT level, and "anomaly" terms are represented at the LLT level in cases where concepts are present. For example, "Urinary tract malformation" (currently an LLT) will be promoted to the PT level, and "Congenital urinary tract anomaly" will occur as an LLT under "Urinary tract malformation."