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49755003: Morphologically abnormal structure (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
82877014 Abnormal tissue appearance en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
495494014 Morphologically abnormal structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
787468010 Morphologically abnormal structure (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3371000077116 structure anormale sur le plan morphologique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5223 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Morphologically abnormal structure Is a Morphologically altered structure true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Acquired abnormality of congenital malformed heart valve following repair (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare teratogenic disorder due to acitretin exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Acquired abnormality of common atrioventricular valve following procedure (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Acquired structural abnormality of pharyngotympanic tube following procedure Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Congenital anomalous tracheobronchial branching (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomalous arrangement of pancreatobiliary duct (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomalous arrangement of pancreatobiliary duct (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Autosomal recessive Robinow syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
46,XX disorder of sex development Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Epiblepharon of bilateral eyelids (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Epiblepharon of bilateral eyelids (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Bilateral euryblepharon Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Bilateral euryblepharon Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Bilateral partial cryptophthalmos Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Bilateral partial cryptophthalmos Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital abnormality of truncal valve Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Complete cryptophthalmos (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Bilateral cryptophthalmos Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Bilateral cryptophthalmos Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Cervicothoracic spina bifida aperta with hydrocephalus Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Cervicothoracic spina bifida aperta with hydrocephalus Associated morphology True Morphologically abnormal structure Inferred relationship Some 6
Cockayne syndrome is a rare autosomal recessive disease, manifestations may include short stature, progeria, photosensitivity, and learning delay, failure to thrive in the newborn, microcephaly and neurological developmental delay. Type 3 Cockayne syndrome, is the mildest type. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cockayne syndrome is a rare autosomal recessive disease, manifestations may include short stature, progeria, photosensitivity, and learning delay, failure to thrive in the newborn, microcephaly, neurological developmental delay. Type 1 Cockayne syndrome, also 'classic' or 'moderate' usually presents in early childhood. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cockayne syndrome is a rare autosomal recessive disease, manifestations may include short stature, progeria, photosensitivity, and learning delay, failure to thrive in the newborn, microcephaly, neurological developmental delay. Type 2 Cockayne syndrome, also known as 'severe' or 'early onset' usually presents in at or soon after birth. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cervicothoracic spina bifida aperta Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Cervicothoracic spina bifida aperta Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Abnormality of fetal heart Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Left to right flow of foramen ovale of foetal heart Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
augmentation de la vitesse dans une artère coronaire du fœtus Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital malformation of left calcaneus Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital malformation of right calcaneus Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Carrier of spinal muscular atrophy (finding) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Placenta extrachorales (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Anomaly of placenta Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Abnormal yolk sac Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Anomaly of fetal ear Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cribriform hymen (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Laurin-Sandrow syndrome (LSS) is characterized by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
A polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Lumbosacral spina bifida aperta Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Lumbosacral spina bifida aperta Associated morphology True Morphologically abnormal structure Inferred relationship Some 6
Lumbosacral spina bifida aperta with hydrocephalus Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Lumbosacral spina bifida aperta with hydrocephalus Associated morphology True Morphologically abnormal structure Inferred relationship Some 6
Type 3 lissencephaly Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Linear umbilical cord disruption Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital fusion of left atrioventricular valve papillary muscles Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Congenital hypoplastic left atrioventricular valve papillary muscle (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
6q16 microdeletion syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 7
valve auriculo-ventriculaire gauche imperforée Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Straddling left atrioventricular valve Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Double orifice of left atrioventricular valve Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
True cleft of left atrioventricular valve leaflet Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Accessory tissue on left atrioventricular valve leaflet (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Left atrioventricular valve chordae too short Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Left atrioventricular valve chordae too long Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Left atrioventricular valve chordae to outlet septum Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Arcade abnormality of left atrioventricular valve chordae Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Left atrioventricular valve atresia Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Left atrioventricular valve dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Left atrioventricular valve hypoplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Overriding left atrioventricular valve Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Left atrioventricular valve leaflet abnormality (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Absent left atrioventricular valve leaflets Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Left atrioventricular valve prolapse Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Left atrioventricular valve leaflet dysplasia Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Abnormality of left atrioventricular valve chordae tendinae Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Left atrioventricular valve stenosis in double inlet ventricle (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Dilatation of left atrioventricular (not morphologically mitral) valve in double inlet ventricle Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Anomaly of umbilical vein group III (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Anomaly of umbilical vein group IV (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Stickler syndrome type 1 Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Stickler syndrome type 1 Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Stickler syndrome type 2 Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Stickler syndrome type 2 Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Stickler syndrome type 4 (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Stickler syndrome type 4 (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Anomaly of umbilical vein group I Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Anomaly of umbilical vein group II Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Thoracolumbosacral spina bifida aperta (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 7
Thoracolumbosacral spina bifida aperta (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 8
Spina bifida aperta of upper thoracic spine (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Spina bifida aperta of upper thoracic spine (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Retinitis pigmentosa-deafness syndrome type 3 (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Spina bifida without hydrocephalus - open Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Thoracic spina bifida without hydrocephalus - open Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Lumbar spina bifida without hydrocephalus - open Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Sacral spina bifida without hydrocephalus - open Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Cervical spina bifida without hydrocephalus - open Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Lumbar spina bifida with hydrocephalus - open Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
Rachischisis with hydrocephalus Associated morphology True Morphologically abnormal structure Inferred relationship Some 6
Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Rachischisis totalis (holorachischisis) is the extreme form in which the entire spinal cord remains open. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Rachischisis partialis (merorachischisis) is the partial form where the spinal cord is partially closed and partially open. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Rachischisis is a neural tube defect, which occurs when the neural folds do not join at the midline and the undifferentiated neuroectoderm remains exposed. Rachischisis partialis (merorachischisis) is the partial form where the spinal cord is partially closed and partially open. Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Occult spinal dysraphism sequence Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as tufts of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare disorder that presents as a flat neural placode (at the level of the skin of the back) that is exposed to the environment. The lack of expansion of the subarachnoid space distinguishes this lesion from myelomeningocele. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3

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