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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
Lack of ossification of basisphenoid bone Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Acommissural unicuspid aortic valve (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Lack of ossification of lacrimal bone Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Congenital abnormality of cardiac ventricle Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Commissural fusion of aortic valve Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Accessory tissue on pulmonary valve cusp Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Lack of ossification of premaxilla Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Quadricuspid aortic valve Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Unicommissural unicuspid aortic valve (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Lack of ossification of presphenoid bone Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Rhinocephaly Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Short ulna-dysmorphism-hypotonia-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe global development delay, severe intellectual disability, mild hypotonia, a short ulna, hirsutism of the face and extremities, minimal scoliosis, and facial dysmorphism, notably a tall broad forehead, synophrys, hypertelorism, malar hypoplasia, broad nose with thick alae nasi, low-set, small ears, long philtrum, thin upper lip and everted lower lip vermilion. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome is a rare, syndromic intellectual disability syndrome characterized by cortical blindness, different types of seizures, intellectual disability with limited or absent speech, and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
14q24.1q24.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare, autosomal recessive, syndromic intellectual disability disorder characterized by global development delay, mild microcephaly, mild to severe intellectual disability and non-specific facial dysmorphism in association with variable multiple congenital anomalies including congenital heart defects, dental anomalies, cryptorchidism, renal and cerebral malformations. Short stature is frequent. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare genetic syndromic intellectual disability characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected). Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or ocular defects, may be observed. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome is a rare, non-acquired pituitary hormone deficiency syndrome characterized by severe, congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
A rare developmental defect during embryogenesis syndrome characterized by hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Hutchinson's triad Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Tapered teeth (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Developmental anomaly of root of tooth (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Developmental abnormality of tooth size and form Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Intramedullary glomus arteriovenous malformation of spinal cord (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Intramedullary and extramedullary arteriovenous malformation of spinal cord (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Otomandibular dysostosis Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Developmental abnormality of cusp of tooth (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Developmental anomaly of crown and root formation (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Temporo-auro-mandibular dysostosis Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Developmental anomaly of tooth Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Chudley-McCullough syndrome is a rare, genetic, syndromic deafness characterized by severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heterotopia) and, in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital malformation of bilateral external ears (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital malformation of bilateral external ears (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (brachycephaly resulting from craniosynostosis, frontal bossing, downslanting palpebral fissures, large and low-set ears, depressed nasal bridge, high-arched, wide palate, thin upper lip), impaired neurological development with intellectual disability, hypotonia, pyloric stenosis, pectus excavatum, bilateral cryptorchidism and short stature. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (including brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (including brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (including dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, brachydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
A rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognathism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Cutis laxa mit schweren Lungen-, Magen-, Darm- und Harnwegs-Anomalien Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
A rare congenital limb malformation syndrome characterized by facial dysmorphism (high forehead, depressed nasal bridge, long philtrum, flat malar region, high arched palate), short stature and deformities of the hands and feet (small hands/feet, flexion contractures of the first three metacarpophalangeal joints, extension contractures of the thumbs at the interphalangeal joints, clawed toes, mild pes cavus). Additional features include neonatal hypotonia, thin and shiny skin of the hands/feet, ridged nails, dry and coarse hair, mild weakness of the orbicularis oculi muscles and occasional ventricular extrasystoles. Intellectual disability may be present. There have been no further descriptions in the literature since 1970. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare congenital limb malformation syndrome characterized by facial dysmorphism (high forehead, depressed nasal bridge, long philtrum, flat malar region, high arched palate), short stature and deformities of the hands and feet (small hands/feet, flexion contractures of the first three metacarpophalangeal joints, extension contractures of the thumbs at the interphalangeal joints, clawed toes, mild pes cavus). Additional features include neonatal hypotonia, thin and shiny skin of the hands/feet, ridged nails, dry and coarse hair, mild weakness of the orbicularis oculi muscles and occasional ventricular extrasystoles. Intellectual disability may be present. There have been no further descriptions in the literature since 1970. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additional features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital malformation of bilateral ears (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Congenital malformation of bilateral ears (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Single left ventricle Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Osteogenesis imperfecta with blue sclerae AND normal teeth Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Single right ventricle Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphthalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Myelocele with hydrocephalus (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare, syndromic intellectual disability characterized by hypotonia, developmental delay, absent or severly delayed speech development, intellectual disability, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomia with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestations (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism, and crowding of teeth. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism, and crowding of teeth. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism, and crowding of teeth. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by delayed motor development, intellectual disability, dysarthria, pseudobulbar signs, cryptorchidism, and syndactyly associated with a FLBN1 gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compression have also been reported. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome is a rare, genetic, neural tube defect malformation syndrome characterized by sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, single umbilical artery and, in some, increased nuchal translucency. Associated morphology True Morphologically abnormal structure Inferred relationship Some 4
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome is a rare, genetic, neural tube defect malformation syndrome characterized by sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, single umbilical artery and, in some, increased nuchal translucency. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leukonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
SCALP syndrome is a rare skin disease characterized by the association of sebaceous nevus and aplasia cutis congenita (usually on the scalp and face) in conjunction with limbal dermoid of the eye, a giant congenital melanocytic nevus and variable central nervous system abnormalities, including seizures, hydrocephalus, neurocutaneous melanosis, arachnoid cysts, and diffuse unilateral hemisphere enlargement. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Dandy-Walker syndrome with spina bifida Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital overriding toes of bilateral feet (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 5
Congenital overriding toes of right foot (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Congenital overriding toes of left foot (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
A rare, genetic, syndromic dysostosis characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (including misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare skin disorder characterized by the co-occurrence of sebaceous nevi with aplasia cutis congenita located directly adjacent or in close proximity and ocular abnormalities including limbal dermoids and coloboma of the conjunctiva. Associated morphology True Morphologically abnormal structure Inferred relationship Some 3
A rare, genetic disease characterized by pre-and postnatal growth delay, feeding difficulties, muscular hypotonia, motor developmental delay (with or without mild intellectual disability) and mild facial dysmorphism, such as broad, prominent forehead, short nose with flat nasal root and wide tip, downturned corners of mouth, high-arched palate and micrognathia. Additional features include childhood-onset central obesity, premature puberty and variable bone abnormalities (e.g. small hands and feet, dolichospondyly, slender long bones and craniofacial disproportion). Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distinctive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognathia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postnatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphism (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognathia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare syndromic microphthalmia characterized by bilateral, usually asymmetrical, microphthalmia associated typically with a unilateral coloboma, truncal obesity, borderline to mild intellectual disability, hypogenitalism and, more variably, nystagmus, cataracts and developmental delay. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
A rare, genetic, hematologic disorder characterized by bone marrow failure which manifests with aplastic anemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner. Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
A rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, wooly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated. Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital deformity of bilateral upper limbs (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Congenital deformity of bilateral upper limbs (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Long umbilical cord Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Marginal insertion of umbilical cord Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Maxillary asymmetry due to hemifacial hypertrophy (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Asymmetry of jaw Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Maxillary asymmetry due to hemifacial atrophy Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Asymmetry of mandible Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Asymmetry of inferior border of mandible Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Velamentous insertion of umbilical cord Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Asymmetry of maxilla Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Four vessels in umbilical cord (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 1
Impairment of hearing of bilateral ears co-occurrent and due to congenital ear malformation (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 2
Impairment of hearing of bilateral ears co-occurrent and due to congenital ear malformation (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Congenital malformation of left ear with impairment of hearing Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Impairment of hearing of right ear co-occurrent and due to congenital ear malformation (disorder) Associated morphology True Morphologically abnormal structure Inferred relationship Some 1
Photoonycholysis Associated morphology False Morphologically abnormal structure Inferred relationship Some 2
Nodular elastosis with cysts and comedones (disorder) Associated morphology False Morphologically abnormal structure Inferred relationship Some 3
Sunburn of third degree Associated morphology False Morphologically abnormal structure Inferred relationship Some 2

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