Congenital

The concept  66091009 |Congenital disease (disorder)|, means present at birth. Though the word congenital may be applied to genetic disorders, the term genetic is preferred for those disorders. 

The logical definition of a congenital disorder must include:

Occurrence = Congenital (qualifier value).

It may also include:

Finding site = X (body structure)

Associated morphology = X (morphologic abnormality)

Pathological process = Pathological development process (qualifier value)

All of these defining relationships should be grouped to indicate that the abnormal morphology occurs at the finding site, results from a pathological development process, and is present at birth. Where a morphologic abnormality occurs at more than one finding site, or one body structure has multiple morphologic abnormalities, multiple relationship groups should be created and the pathological process and occurrence relationships included in each relationship group.

The following guidelines apply:

A disorder with the word congenital in the FSN should classify under 66091009 |Congenital disease (disorder)|. 

Congenital X (morphologic abnormality) concepts are being inactivated hence Congenital anomaly disorder grouper concepts, such as  9904008 |Congenital anomaly of cardiovascular system (disorder)|, should be modeled with an Associated morphology (attribute) of 49755003 |Morphologically abnormal structure (morphologic abnormality)I and a Pathological process relationship. 

Whether creating new or revising existing concepts, only use Congenital X (morphologic abnormality) concepts if no non-congenital supertype of that morphologic abnormality is active.

• • For example, use 399898009 |Misalignment (morphologic abnormality)| not 102283003 |Congenital misalignment (morphologic abnormality)|

Congenital versus acquired

While some disorders are only congenital or only acquired, some disorders may be either congenital or acquired.  The acquired form should only exist when there is a need to differentiate from the congenital form.  Do not model a disorder as acquired if a congenital variant does not exist. 

Congenital disorders are modeled using 246454002 |Occurrence (attribute)| of 255399007 |Congenital (qualifier value)|. If the FSN does not include congenital, it should not be modeled as congenital. The precise meaning of the FSN should be followed (e.g. many hereditary disorders have congenital appearances).

For example,

33534005 |Congenital bowing of femur (disorder)| is modeled with 246454002 |Occurrence (attribute)| of  255399007 |Congenital (qualifier value)|

Figure 1: Stated view of 33534005 |Congenital bowing of femur (disorder)|

Acquired disorders are those that originate and manifest after birth. The disorders are associated with a period of life, as opposed to a specific process or structure. All diseases (disorders) that occur after birth are considered acquired. 

Generally, concepts that explicitly state acquired in the FSN or in a synonym should be modeled with Occurrence = 767023003 |Period of life beginning after birth and ending before death (qualifier value)|.

For example,

240253004 |Acquired abduction deformity of foot (disorder)| has acquired in the FSN and is modeled with Occurrence = 767023003 |Period of life beginning after birth and ending before death (qualifier value)|.

Figure 2: Stated view of 240253004 |Acquired abduction deformity of foot (disorder)|

Congenital absence

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

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 (attribute) = Structure of X

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
• Pathological process (attribute) = 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
• Pathological process (attribute) = Pathological developmental process (qualifier value)

See also relative sections:

Acquired abnormality of congenital anomaly

Malformation, deformation, anomaly