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Congenital absence can represent at least three different classes of absence:

1. Total developmental absence of the affected organ/structure
2. Partial absence of the affected organ/structure
3. In utero amputation of all or part of the affected organ/structure

Conventional use of the terms aplasia and agenesis often regard these as synonymous.  However, proper definitions of these terms suggests a distinction that should be made in the terminology when included in the FSN.

• Aplasia -  defective development resulting in the absence of all or part of an organ or tissue.
• Agenesis - absence of an organ due to nonappearance of its primordium in the embryo. (implies complete absence)

In order to conform to the intended meaning of the FSNs as described by the original source, the following modeling patterns are proposed for congenital absence terms:

Congenital absence of X

• Associated morphology (attribute)  = 418560003 | Absence (morphologic abnormality)|

• Occurrence (attribute) = 255399007 |= Congenital (qualifier value)

• Finding site = Structure of X (body structure)

Aplasia

• Associated morphology = Aplasia (morphologic abnormality)
• Occurrence = Congenital (qualifier value)|
• Finding site (attribute)  = Structure of X (body structure)
• Pathological process = Pathological developmental process (qualifier value)

Aplasia or Partial absence of X

• Associated morphology (attribute)  = 45486003 | Aplasia (morphologic abnormality) | or 890175002 | Transverse deficiency (morphologic abnormality)|
• Occurrence (attribute)  = 255399007 | Congenital (qualifier value)|
• Finding site (attribute)  = Part of X (body structure)
• Pathological process (attribute) =  Pathological Pathological developmental process (qualifier value)

Agenesis of X or Complete absence of X 

• Associated morphology (attribute)  = 782173000 | Agenesis (morphologic abnormality)|
• Occurrence (attribute)  = 255399007 | Congenital (qualifier value)|
• Finding site (attribute)  = Entire X (body structure)
• Pathological process (attribute) =  Pathological Pathological developmental process (qualifier value)

See also relative sections:

• Acquired abnormality of congenital anomaly
• Malformation, deformation, anomaly