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308490002: Pathological developmental process (qualifier value)

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
451847013 Pathological developmental process en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
705033019 Pathological developmental process (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Pathological developmental process Is a Pathological process true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Unipartite right ventricle (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Obstructive Eustachian valve Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Prolapse of Eustachian valve (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital posterolateral diaphragmatic hernia (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ehlers-Danlos syndrome, recessive type 4 Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Thoracolumbar spina bifida with hydrocephalus - closed (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Omphalocele with obstruction Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Thoracic spina bifida with hydrocephalus - open Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Sacral spina bifida with hydrocephalus - open Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Mandibuloacral dysostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Mandibuloacral dysostosis Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
Thoracic spina bifida with hydrocephalus Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Spina bifida with hydrocephalus - closed Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Spina bifida with hydrocephalus - open Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Vascular Ehlers-Danlos syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Thoracic spina bifida with hydrocephalus - closed Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital stenosis of stomach Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lumbar spina bifida with hydrocephalus - closed Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
syndrome d'Ehlers-Danlos type 1 Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Sacral spina bifida with hydrocephalus - closed Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Cutis laxa, x-linked Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
syndrome d'Ehlers-Danlos de type 7B Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Beckwith-Wiedemann syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Spina bifida with hydrocephalus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Fissured spine with hydrocephalus Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Ehlers-Danlos syndrome, hydroxylysine-deficient Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
syndrome d'Ehlers-Danlos de type cyphoscoliotique Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Ehlers-Danlos syndrome, dysfibronectinemic Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
syndrome d'Ehlers-Danlos type 2 Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Arthrochalasia Ehlers-Danlos syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Lumbar spina bifida with hydrocephalus - open Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Ehlers-Danlos syndrome, dominant type 4 Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Simple omphalocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
Patent vitelline duct (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Thoracic hydromeningocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
X-linked Ehlers-Danlos syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Lumbar spina bifida with hydrocephalus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4 Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
Double outlet left ventricle Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Double outlet left ventricle Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Hydrencephalomeningocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
Hydrencephalomeningocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 5
Moon's molar teeth Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Scimitar syndrome with additional anomalous pulmonary venous connection (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Scimitar syndrome with additional anomalous pulmonary venous connection (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Scimitar syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Scimitar syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Infection causing congenital anomaly Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Anomaly of fetal kidney Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Micro syndrome is an autosomal recessive disorder characterized by ocular and neurodevelopmental defects and by micro genitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Micro syndrome is an autosomal recessive disorder characterized by ocular and neurodevelopmental defects and by micro genitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Micro syndrome is an autosomal recessive disorder characterized by ocular and neurodevelopmental defects and by micro genitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Cyst of left preauricular region Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cyst of right preauricular region Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cyst of bilateral preauricular regions (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cyst of bilateral preauricular regions (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A form of spondylodysplastic Ehlers-Danlos syndrome (EDS) due to variants in the SLC39A13 gene and characterized by the presence of thin and finely wrinkled skin of the hands and feet, hypermobile distal joints, characteristic facial features (downslanting palpebral fissures, mild hypertelorism, prominent eyes with a paucity of periorbital fat, blueish sclerae, microdontia or oligodontia), muscular hypotonia, associated with significant short stature of childhood-onset, ocular findings (myopia and keratoconus) and, more rarely, vascular complications. Mild radiographic changes were observed, among which platyspondyly is a useful diagnostic feature. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A form of spondylodysplastic Ehlers-Danlos syndrome (EDS) due to variants in the SLC39A13 gene and characterized by the presence of thin and finely wrinkled skin of the hands and feet, hypermobile distal joints, characteristic facial features (downslanting palpebral fissures, mild hypertelorism, prominent eyes with a paucity of periorbital fat, blueish sclerae, microdontia or oligodontia), muscular hypotonia, associated with significant short stature of childhood-onset, ocular findings (myopia and keratoconus) and, more rarely, vascular complications. Mild radiographic changes were observed, among which platyspondyly is a useful diagnostic feature. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (including long, downward slanting palpebral fissures, hypertelorism, posteriorly rotated ears, broad nasal bridge, short nose with a bulbous tip and anteverted nares, downturned corners of the mouth) as well as vertebral (occult spina bifida, hemivertebrae), brain (ventricular dilatation, agenesis of corpus callosum), cardiac (tetralogy of Fallot, ventricular septal defect) and gastrointestinal (short esophagus with intrathoracic stomach, small intestine, spleen and pancreas, anal atresia) malformations. There have been no further descriptions in the literature since 1991. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphyseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphyseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
dysplasie spondylo-épimétaphysaire type Bieganski Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests and marked sclerosis of the skull base. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 5
Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, renal malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, genetic, renal malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare, genetic, renal malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Estren-Dameshek anemia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
An extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Papillon-Lefèvre syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Dysmorphism-conductive hearing loss-heart defect syndrome is a rare, multiple congenital anomalies syndrome characterized by a distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, flat nares, Cupid bow upper lip vermilion, and small, low-set, posteriorly rotated ears), in addition to cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Constitutional aplastic anemia with malformation Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Lack of ossification of auditory ossicles Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare constitutional aplastic anemia disorder characterized by severe hypo/aplastic anemia or pancytopenia associated with skeletal anomalies (such as radial/ulnar defects and hand/digit abnormalities) and an increased risk of leukemia. There have been no further descriptions in the literature since 1995. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4

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