External Abnormalities – 27-Jul-2006 draft



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Terminology of Developmental Abnormalities in Common Laboratory Mammals (Version 2)

External Abnormalities – 27-Jul-2006 draft

Region / Organ / Structure

Observation

Code Number

Synonym or Related Term

Non-preferred Term

Definition

Note

General

Edema

Generalized

10001

Anasarca




An accumulation of interstitial fluid in subcutaneous connective tissue










Local

10005







Localized accumulation of fluid







Conjoined twins




10002

Omphalosite




Monozygotic twins with variable incomplete separation into two during cleavage or early stages of embryogenesis

Site and extent of fusion should be described




Distended abdomen




New







Abdomen appears larger than normal

May be due to presence of fluid in abdomen or enlarged organs




Fetus

Discolored

New

Skin discoloration




Generalized or localized region of abnormal color (other than pale)

See also “General - Pale fetus”







Pale

New







Generalized absence of color when compared to a normal specimen

See also “General - Discolored fetus”




Hemorrhage




10004

Petechia, Purpura, Ecchymosis, Hematoma




An accumulation of extravasated blood







Skin

Absent

10003

Cutis aplasia




Localized region of no skin development










Lesion

New

Cutis lesion




Localized region of abnormal skin










Tag

New







Small appendage of skin




Head / Neck

Acephalostomia




10008




Acrania

Absence of head but with the presence of mouth-like orifice in the neck region







Anencephaly




10010




Acrania

Absence of the cranial region of the head, with the brain absent or reduced






Cranial meningocele




10016







Herniation of meninges through a defect in skull







Cranioschisis




10011







Fissure of the cranial region of the head with varying degrees of the brain exposed







Exencephaly




10013




Acrania

Brain protrudes outside the skull due to absence of all or part of the cranial vault

Erosion of brain tissue has not occurred as in Anencephaly




External aural fistula




New







An opening to a cyst produced by a persistent lateral cervical sinus or reduplicated 1st pharyngeal cleft usually located ventral to the ear.







Head

Absent

10009

Acephaly




Absence of the head










Domed

10012







Cranial region of head appears more elevated and rounded than normal

May or may not be associated with hydrocephaly

Head / Neck – continued

Head

Misshapen

New



















Large

10015

Macrocephaly




Disproportionately large head










Small

10018

Leptocephaly, Microcephaly, Nanocephaly




Disproportionately small head







Iniencephaly




10014







Exposure of occipital brain and upper spinal cord tissue; involves extreme retroflection of the head







Meningoencephalocele




10017

Encephalomeningocele

Cephalocele, Craniocele, Encephalocele

Herniation of brain and meninges through a cranial opening

May or may not be covered by skin




Meningohydroencephalocele




New







Herniation of brain, cerebral ventricle, and meninges through a defect in skull




Ear

Pinna

Absent

10019

Anotia




Absence of external ear










Fused

10024

Synotia




Fusion or abnormal approximation of pinnae below the face










Large

10020

Macrotia




Disproportionately large external ear










Malpositioned

10021

Low set pinna
















Misshapen

10023
















Pinna

Small

10022

Microtia

Ear tab

Disproportionately small external ear




Eye

Cryptophthalmia




10026

Cryptophthalmos




Skin continuous over eye(s) without formation of eyelid(s)

May be associated with micro- or anophthalmia




Cyclopia




10027

Monophthalmia, Single eyeball, Synophthalmia




Single orbit; eyeball(s) can be absent, completely or incompletely fused

Snout may be absent or appear as a frontonasal appendage (proboscis) above the orbit




Exophthalmos




10029

Exophthalmia, Proptosis, Protruding eye

Pop-eye

Excessive protrusion of the eyeball







Eye

Malpositioned

10030



















Open

10033




Ablepharia

Eyeball visible







Eye bulge

Absent

10025










Abnormalities of eye prior to opening of the eyelid







Large

10028



















Small

10035
















Microblepharia




10031







Short vertical dimension of eyelid







Palpebral coloboma




10034







A notch or fissure of the eyelid






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