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1.

Abnormal Esterman grid perimetry test

The Esterman grid test assays scores visual acuity. The grid consists of 100 units whose unequal size and distribution reflect the unequal functional value of different parts of the field-in effect a weighted or relative-value scale. Because each unit equals 1 percent, a simple count of units yields the functional score in percent. [from HPO]

MedGen UID:
1841545
Concept ID:
C5826357
Finding
2.

Achondrogenesis

A rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2. [from ORDO]

MedGen UID:
84
Concept ID:
C0001079
Congenital Abnormality

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