FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
Congenital deformity of bilateral calcanea (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital anomaly of blood vessel of right upper limb (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of blood vessel of left upper limb (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of blood vessel of right lower limb (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital anomaly of blood vessel of left lower limb (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare disease with characteristics of capillary malformation and soft tissue hypertrophy. The cause is unknown however GNA11 mutation has been reported in some patients. Capillary malformation in this disease has characteristics of widespread reticulated erythematous patches. The associated overgrowth is proportionate and is not progressive. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital trigger finger of bilateral hands (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital trigger finger of bilateral hands (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital malformation of bone of thorax (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital structural abnormality of bilateral orbits proper (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital structural abnormality of bilateral orbits proper (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital structural abnormality of left orbit proper (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital structural abnormality of right orbit Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital structural abnormality of ciliary body (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital structural abnormality of left cornea (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital structural abnormality of right cornea (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital structural abnormality of bilateral eyelids (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital structural abnormality of bilateral eyelids (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare difference of sex development (DSD) characterised by the presence of female external genitalia, ambiguous genitalia or variable defects in virilisation in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS). Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Stromal cell hyperplasia in androgen insensitivity syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Testicular lesion in androgen insensitivity syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare genetic neurometabolic disease with characteristics of prenatal and postnatal growth retardation, hypotonia, failure to thrive, large and late-closing fontanel, development delay, cutis laxa, joint laxity, progeroid appearance and dysmorphic facial features. In addition, corneal opacities, cataracts, myopia, seizures, hyperreflexia and athetoid movements have also been associated. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare genetic syndrome with characteristics of developmental delay and mild to moderate intellectual disability. Verbal language acquisition is usually delayed, with restricted language. The congenital heart defects are present in 41% of individuals, the most frequent being interatrial communication and interventricular communication. The syndrome is caused by heterozygous, usually de novo pathogenic or likely pathogenic variants in the CDK13 gene (7p14.1), coding for a protein which regulates transcription. Transmission is autosomal dominant however, in most situations, the pathogenic variants arise de novo, and thus, the risk of sibling recurrence is low. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by a variable phenotype including macrocephaly, postnatal overgrowth, advanced carpal ossification, obesity, speech delay, intellectual disability, autism spectrum disorders, and behavioral difficulties with aggressive outbursts, and variable facial dysmorphism. Seizures, structural abnormalities of the brain, as well as a variety of other manifestations such as recurrent otitis media, joint hypermobility, hirsutism, or nevi have also been reported. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare genetic neurometabolic disease characterised by microcephaly, short stature, epilepsy, cerebral hypomyelination, severe global developmental delay, and progressive spasticity. Macrocytic anaemia and hyperthermia have also been reported in association. Brain imaging reveals delayed myelination with minimal progression over time, mild cerebellar atrophy and/or thin corpus callosum. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, obesity, macrocephaly, behavioral abnormalities (such as aggressive tantrums and autistic-like behavior), and delayed speech development. Dysmorphic facial features include large, square forehead, prominent supraorbital ridges, broad nasal tip, large ears, prominent lower lip, and minor dental anomalies such as small upper lateral incisors and central incisor gap. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare multiple congenital anomalies syndrome with characteristics of several of the typical clinical features of Bohring Opitz syndrome such as intrauterine growth retardation, facial dysmorphism, microcephaly, severe feeding difficulties, joint contractures, intellectual disability and a Bohring Opitz syndrome posture of upper limbs. Trigonocephaly, synophrys, high myopia and cyclic emesis are very rarely described. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare multiple congenital anomalies syndrome with characteristics of several of the typical clinical features of Bohring Opitz syndrome such as intrauterine growth retardation, facial dysmorphism, microcephaly, severe feeding difficulties, joint contractures, intellectual disability and a Bohring Opitz syndrome posture of upper limbs. Trigonocephaly, synophrys, high myopia and cyclic emesis are very rarely described. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A form of pontocerebellar hypoplasia characterized by microcephaly, severe global developmental delay and intellectual disability, dysmorphic facial features, cerebellar syndrome, and pontocerebellar hypoplasia on brain imaging. Behavioral abnormalities are frequently observed. Other reported manifestations include seizures, ocular anomalies, recurrent respiratory infections, and thin or absent corpus callosum, among others. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A lethal form of pontocerebellar hypoplasia with characteristics of prenatal onset of microcephaly, hypoplasia of the cerebellum, brainstem, and spinal cord, dysmorphic craniofacial features such as sloping forehead and micrognathia, and multiple contractures. Supratentorial atrophy has also been reported. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare dysraphic abnormality characterised by the infiltration of fatty tissue localised in the filum terminale, which thickens and loses its flexibility, with normal conus shape, regardless of conus level. There is no other spinal cord malformation associated, but it can be associated with extraspinal malformation (anorectal malformation) or syndrome. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare dysraphic abnormality characterised by the infiltration of fatty tissue localised in the filum terminale, with abnormal conus shape. The spinal cord is typically attenuated and the limit between its end and the fatty filum is hard to distinguish. There is no additional spinal cord malformation, but it can be associated with vertebral abnormalities, anorectal malformation or other syndromic condition. It is named transitional for its intermediate image between an isolated filum lipoma and a terminal conus region lipoma. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
A rare intermediate form of open dysraphism between myelomeningocele and saccular limited dorsal myeloschisis without fulfilling the characteristics of one of these two diagnosis, characterized by stretched neurulation of spinal cord attached at the dome of a sac. Partial cerebral signs of open dysraphism can be observed and the meningocele is usually poorly epithelialized. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare intermediate form of open dysraphism between myelomeningocele and saccular limited dorsal myeloschisis without fulfilling the characteristics of one of these two diagnosis, characterized by stretched neurulation of spinal cord attached at the dome of a sac. Partial cerebral signs of open dysraphism can be observed and the meningocele is usually poorly epithelialized. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Acquired prepapillary vascular loop Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
A rare dysraphic spinal cord lipoma with characteristics of a lipomatous mass extending ventrally to the dorsal root entry zone, indicating a more severe malformation of the spinal cord. The diagnosis can be suggested on imaging but usually confirmed during surgery. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare dysraphic spinal cord lipoma with characteristics of a lipomatous mass extending ventrally to the dorsal root entry zone, indicating a more severe malformation of the spinal cord. The diagnosis can be suggested on imaging but usually confirmed during surgery. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
A rare closed lipomatous, dysraphic malformation of the lower spinal cord characterized by extramedullary lipomatous mass attached to the conus region. The conus is dysplastic and poorly delineated. Various morphological subtypes are recognized. Possible symptoms include bowel and bladder dysfunction and neuro-orthopedic deformity of the lower limbs. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
A rare closed dysraphism with stalk characterised by a dorsal midline dermal sinus tract lined by keratinising stratified squamous epithelium extending to the intrathecal space. Other components such as hair follicles and shafts, mesenchymal derivatives (blood vessels and fibrous tissue) and occasionally nerve fibres can be observed. Inflamed granulation tissue containing mixed neutrophils, plasma cells, lymphocytes, and histiocytes is consistently found in the tract. It can also be associated with an intradural dermoid cyst. This malformation is at risk to cause intrathecal infections (meningitis, empyema) that justify prophylactic surgery. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare closed dysraphism with stalk characterised by a dorsal midline dermal sinus tract lined by keratinising stratified squamous epithelium extending to the intrathecal space. Other components such as hair follicles and shafts, mesenchymal derivatives (blood vessels and fibrous tissue) and occasionally nerve fibres can be observed. Inflamed granulation tissue containing mixed neutrophils, plasma cells, lymphocytes, and histiocytes is consistently found in the tract. It can also be associated with an intradural dermoid cyst. This malformation is at risk to cause intrathecal infections (meningitis, empyema) that justify prophylactic surgery. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
A rare closed dysraphism with terminal stalk with characteristics of persistant rudimentary spinal cord below conus. It contains non-functional neural tissue and is typically isolated. The diagnostic is suggested by attenuated conus without fat, further confirmed by pathological analysis (glioneuronal core with ependyma-lined lumen, nerve roots, and dorsal root ganglia). Differential diagnostic with intraoperative neurophysiological monitoring is mandatory as neuroimaging fails to distinguish it from functional conus. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare closed dysraphism with terminal stalk with characteristics of persistant rudimentary spinal cord below conus. It contains non-functional neural tissue and is typically isolated. The diagnostic is suggested by attenuated conus without fat, further confirmed by pathological analysis (glioneuronal core with ependyma-lined lumen, nerve roots, and dorsal root ganglia). Differential diagnostic with intraoperative neurophysiological monitoring is mandatory as neuroimaging fails to distinguish it from functional conus. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
A rare, closed spinal dysraphism with characteristics of a myelocystocele at the termination of the spinal cord. It may be an isolated anomaly or be associated with other defects, including sacral agenesis, anorectal and genitourinary anomalies. The conus is not identifiable. The myelocystocele sac may have a significant lipomatous component (terminal lipomyelocystocele). Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
A rare form of limited dorsal myeloschisis (LDM), with characteristics of a non-saccular cutaneous stigmata (midline skin abnormality classically dimple, pit or sometimes angioma), the stalk is attached to the cutaneous stigmata. Fibroneural stalk varies in thickness and complexity. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare form of limited dorsal myeloschisis (LDM), with characteristics of a non-saccular cutaneous stigmata (midline skin abnormality classically dimple, pit or sometimes angioma), the stalk is attached to the cutaneous stigmata. Fibroneural stalk varies in thickness and complexity. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
A rare dysraphic abnormality with characteristics of a persistent connection between the neural tissue and overlying skin. The stalk-like connection consists of a fibroneural tract (mainly composed of fibrous attenuated mesenchymal tissue and neural elements without an epithelial lining) connecting the skin lesion to the underlying dorsal surface of the spinal cord. Fibroneural stalk varies in thickness and complexity, and they pass through the deep fascia, a bifid lamina/ the interspinous ligament, and the dura. It can be associated with filum anomaly. Chiari II malformation is not present. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare dysraphic abnormality with characteristics of a persistent connection between the neural tissue and overlying skin. The stalk-like connection consists of a fibroneural tract (mainly composed of fibrous attenuated mesenchymal tissue and neural elements without an epithelial lining) connecting the skin lesion to the underlying dorsal surface of the spinal cord. Fibroneural stalk varies in thickness and complexity, and they pass through the deep fascia, a bifid lamina/ the interspinous ligament, and the dura. It can be associated with filum anomaly. Chiari II malformation is not present. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
A rare form of limited dorsal myeloschisis (LDM), characterized by the stalk attached to the apex of a fully epithelialized meningocele. Chiari II malformation is not present. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare form of limited dorsal myeloschisis (LDM), characterized by the stalk attached to the apex of a fully epithelialized meningocele. Chiari II malformation is not present. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
A very rare non-dysraphic spinal cord lipoma which is located within the spinal cord. There is no defect in the overlying dura. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital malformation of helix (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare developmental defect during embryogenesis with characteristics of the presence of major features of both blepharophimosis-intellectual disability syndrome and genitopatellar syndrome. These major features may include blepharophimosis, ptosis, hypomimia, skeletal features like patellar a/hypoplasia and renal and/or genital malformations. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterised by variable intellectual disability and/or developmental delay, epilepsy, generalised hypertrichosis, severe gingival overgrowth and visual impairment in some patients. Common craniofacial features include bitemporal narrowing, bushy and straight eyebrows, long eyelashes, low-set ears, deep/short philtrum, everted upper lip, prominent upper and lower vermilion, wide mouth, micrognathia, and retrognathia. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare genetic, multiple congenital anomalies syndrome with characteristics of the overlap of several typical clinical features of Bohring-Opitz syndrome and of Crisponi Syndrome/cold-induced sweating syndrome. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Kelch like family member 7-related Crisponi/cold-induced sweating-like syndrome (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of mild to moderate intellectual disability, autism spectrum phenotype, macrocephaly, tall stature, gastrointestinal problems (including recurrent constipation), distinctive facial features (including wide-set eyes with down-slanted palpebral fissure, broad nose with full nasal tip, pointed chin and broad forehead with prominent supraorbital ridge) and sleep problems. Other clinical manifestations include anxiety problems, attention problems, impaired social interactions, and seizures. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe intellectual disability frequently co-occurring with behavioral problems (including anxiety, attention deficit hyperactivity disorder and autistic spectrum disorder), variable somatic overgrowth, macrocephaly and distinctive dysmorphic facial features including high hairline, frontal bossing, downslanting palpebral fissures, telecanthus, hypertelorism, deep-set eyes and full cheeks. Pierre Robin sequence with submucous cleft has also been reported. Additional clinical features include skeletal abnormalities, hypotonia, cardiac anomalies, hypothyroidism, cryptorchidism, visual disturbances and ectodermal problems such as sparse hair, thin nails, and abnormal dentition. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital malformation of angle of anterior chamber of right eye Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital malformation of angle of anterior chamber of left eye Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital malformation of angle of anterior chamber of bilateral eyes (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital malformation of angle of anterior chamber of bilateral eyes (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare syndromic optic nerve hypoplasia with characteristics of coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported. Associated morphology True Morphologically abnormal structure Inferred relationship Some 5
A rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, severe intellectual disability, severe speech and communication problems and distinctive dysmorphic faces (high hairline, thin eyebrows, hypertelorism, dysmorphic ears, broad nasal bridge and tip, and narrow jaw). Height is not affected. Some patients may also present autistic behaviors. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of complex heart defects (including hypoplastic left heart, aortic valve atresia, mitral valve atresia, tubular hypoplasia of the ascending aorta, Scimitar syndrome), external urogenital abnormalities (including ambiguous external genitalia, poorly defined urethral meatus, blind-ending vagina in females or bifid scrotum, penoscrotal hypospadias with micropenis and cryptorchidism in males). Congenital diaphragmatic hernia, pulmonary hypoplasia and intestinal malrotation are other major clinical features. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of complex heart defects (including hypoplastic left heart, aortic valve atresia, mitral valve atresia, tubular hypoplasia of the ascending aorta, Scimitar syndrome), external urogenital abnormalities (including ambiguous external genitalia, poorly defined urethral meatus, blind-ending vagina in females or bifid scrotum, penoscrotal hypospadias with micropenis and cryptorchidism in males). Congenital diaphragmatic hernia, pulmonary hypoplasia and intestinal malrotation are other major clinical features. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by central nervous system abnormalities (particularly cerebellar hypoplasia), congenital microcephaly, intellectual disability, severe neurodevelopmental delay, growth impairment, dystonia, eye abnormalities (particularly cataract whereas retinal dystrophy and Leber congenital amaurosis are also reported) and congenital dyserythropoietic anemia. Additional clinical features may include other structural brain abnormalities (such as cerebral atrophy, basal ganglia atrophy, brainstem hypoplasia), feeding difficulties, sleep disturbances, hepatomegaly, and sensorineural deafness. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by central nervous system abnormalities (particularly cerebellar hypoplasia), congenital microcephaly, intellectual disability, severe neurodevelopmental delay, growth impairment, dystonia, eye abnormalities (particularly cataract whereas retinal dystrophy and Leber congenital amaurosis are also reported) and congenital dyserythropoietic anemia. Additional clinical features may include other structural brain abnormalities (such as cerebral atrophy, basal ganglia atrophy, brainstem hypoplasia), feeding difficulties, sleep disturbances, hepatomegaly, and sensorineural deafness. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay, speech delay and variable degree of intellectual disability (mostly mid-to-moderate but some patients may also have normal intelligence) due to CHD4 gene mutations. Even though clinical manifestations are significantly variable among patients, most patients manifest dysmorphic facial features (could sometimes include macrocephaly), congenital heart defects, hypotonia and ophthalmologic abnormalities. Other clinical features may include brain structure anomalies, skeletal anomalies, hearing impairment and gonadal abnormalities. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Derangement of radiocarpal joint (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Derangement of bilateral radiocarpal joints (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Derangement of bilateral radiocarpal joints (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Derangement of bilateral ankle joints Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Derangement of bilateral ankle joints Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Derangement of anterior horn of lateral meniscus of bilateral knees Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Derangement of anterior horn of lateral meniscus of bilateral knees Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Derangement of posterior horn of medial meniscus of bilateral knees Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Derangement of posterior horn of medial meniscus of bilateral knees Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Derangement of posterior horn of lateral meniscus of bilateral knees Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Derangement of posterior horn of lateral meniscus of bilateral knees Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Chronic effect of ultraviolet radiation on normal skin (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital heart defect (including atrial or ventricular septal defects and aortic coarctation), cleft palate, and variable degree of developmental delay and intellectual disability. Most patients reported to also have autism spectrum disorder. Overlapping facial features were reported in some patients including broad forehead with high anterior hairline, finely arched eyebrows, short philtrum, thin or tented upper lip. Other clinical features may involve mild distal skeletal abnormalities, hypotonia, hearing loss, feeding problems and skin abnormalities. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Derangement of joint of left wrist region (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Derangement of left radiocarpal joint (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Derangement of right radiocarpal joint (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Derangement of joint of right wrist region Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Derangement of joint of wrist region Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare mesomelic and rhizo-mesomelic dysplasia with characteristics of marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due to mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures. Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare overgrowth/obesity syndrome characterized by mild developmental delay (notably speech delay), behavior abnormalities (including autistic or attention deficit hyperactivity disorder features, hypersociability/overfriendliness), overweight/obesity and mild dysmorphic features (including deep set eyes, broad bulbous nasal tip, large, everted ears, and thin upper lip). Other clinical features include variable and mild intellectual disability when present, broad short hands, and feet. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare closed spinal dysraphism with characteristics of myelocystocele located above the conus region. Also considered as a form of saccular limited dorsal myeloschisis. Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Posterior cord syndrome due to vascular malformation Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Chronic derangement of anterior horn of lateral meniscus Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Chronic derangement of anterior horn of lateral meniscus of left knee (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Chronic derangement of anterior horn of lateral meniscus of right knee (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1

Start Previous Page 139 of 140 End

This concept is not in any reference sets

Back to Start