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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
X-linked intellectual disability-cubitus valgus-dysmorphism syndrome is characterized by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Complete right cleft lip (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare genetic syndromic intellectual disability characterized by language delay and mild to moderate intellectual disability associated with truncal obesity, congenital nonprogressive retinal dystrophy with poor night vision and reduced visual acuity, and micropenis in males. Cataracts may occur in the second or third decade of life. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Brachydactyly syndrome type E Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Brachydactyly syndrome type E Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital pyloric stenosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Syndactyly of thumb (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital horizontal mandibular hyperplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Stenosis of infundibulum of right ventricle (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
X-linked intellectual disability, Stevenson type is characterized by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
X-linked intellectual disability, Stevenson type is characterized by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital developmental anomaly of cystic duct (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital septation of gallbladder Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Schinzel-Giedion syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Schinzel-Giedion syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the common manifestations found in oromandibular-limb hypogenesis syndromes (OLHS) group such as hypoplasia of the mandible, variable limb anomalies like syndactyly and ectrodactyly, small mouth, cleft palate and hypodontia, accompanied by other clinical signs such as facial paralysis, facial asymmetry, hypertelorism, hypoglossia/aglossia, absent or conically crowned incisors and, ectromelia. There have been no further descriptions in the literature since 1976. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the common manifestations found in oromandibular-limb hypogenesis syndromes (OLHS) group such as hypoplasia of the mandible, variable limb anomalies like syndactyly and ectrodactyly, small mouth, cleft palate and hypodontia, accompanied by other clinical signs such as facial paralysis, facial asymmetry, hypertelorism, hypoglossia/aglossia, absent or conically crowned incisors and, ectromelia. There have been no further descriptions in the literature since 1976. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the common manifestations found in oromandibular-limb hypogenesis syndromes (OLHS) group such as hypoplasia of the mandible, variable limb anomalies like syndactyly and ectrodactyly, small mouth, cleft palate and hypodontia, accompanied by other clinical signs such as facial paralysis, facial asymmetry, hypertelorism, hypoglossia/aglossia, absent or conically crowned incisors and, ectromelia. There have been no further descriptions in the literature since 1976. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the common manifestations found in oromandibular-limb hypogenesis syndromes (OLHS) group such as hypoplasia of the mandible, variable limb anomalies like syndactyly and ectrodactyly, small mouth, cleft palate and hypodontia, accompanied by other clinical signs such as facial paralysis, facial asymmetry, hypertelorism, hypoglossia/aglossia, absent or conically crowned incisors and, ectromelia. There have been no further descriptions in the literature since 1976. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A genetically heterogeneous autosomal recessive syndrome characterised by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A genetically heterogeneous autosomal recessive syndrome characterised by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A genetically heterogeneous autosomal recessive syndrome characterised by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Transverse arrest phalangeal level second ray Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital rearfoot valgus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Secondary congenital bronchomalacia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital dilatation of stomach Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Spina bifida of lumbar region Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Spina bifida of lumbar region Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Spina bifida of lumbar region Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and intellectual disability. There have been no further descriptions in the literature since 1978. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and intellectual disability. There have been no further descriptions in the literature since 1978. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Junctional epidermolysis bullosa mitis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of adrenal gland Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Fusion of teeth Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare primary bone dysplasia characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare primary bone dysplasia characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare primary bone dysplasia characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Acromesomelic dysplasia Hunter-Thompson type (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cervical thymic remnant Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cervical thymic remnant Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Agenesis of corpus callosum with lipoma Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Harlequin ichthyosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Osteodysplastic primordial dwarfism, type 2 Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital stricture of cerebral artery Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bicornuate uterus complicating antenatal care, baby not yet delivered Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Manus flexa Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Manus flexa Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Supernumerary arch of thoracic vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Duplex kidney with reflux in both ureters Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Dumbbell-shaped cartilaginous centrum of sacral vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Pentalogy of Cantrell Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Preauricular fistula Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hypoplasia of corpus callosum Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Dolichocephalic dwarfism Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Dolichocephalic dwarfism Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of carotid artery Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Follicular ichthyosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital absence of arch of thoracic vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Atrioventricular septal defect: atrial and ventricular components Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Atrioventricular septal defect: atrial and ventricular components Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
An extremely rare polymalformative syndrome. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
An extremely rare polymalformative syndrome. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
An extremely rare polymalformative syndrome. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
McDonough syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism. There have been no further descriptions in the literature since 1984. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Left renal hypoplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Liver in left sided position (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ochoa syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Metaphyseal chondrodysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Atresia and stenosis of large intestine, rectum and anal canal Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Duplication of whole limb Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Marie Unna syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare syndromic disorder with strabismus with characteristics of congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities among others. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Arteriovenous malformation of maxilla (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Chiari malformation type IV Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anosmia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hypoplasia of clavicle Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malposition of fibula Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Thoracic spina bifida with hydrocephalus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Thoracic spina bifida with hydrocephalus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Thoracic spina bifida with hydrocephalus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, hereditary, congenital limb malformation characterized by polydactyly with crossed involvement of hands and feet with no other associated malformations or anomalies. Patients present with a combination of unilateral or bilateral preaxial polydactyly of hands with postaxial polydactyly of feet or postaxial polydactyly of hands with preaxial polydactyly of feet. Additional manifestations include bilateral cutaneous syndactyly of first, second and third toes and occasionally cutaneous syndactyly of hands. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, hereditary, congenital limb malformation characterized by polydactyly with crossed involvement of hands and feet with no other associated malformations or anomalies. Patients present with a combination of unilateral or bilateral preaxial polydactyly of hands with postaxial polydactyly of feet or postaxial polydactyly of hands with preaxial polydactyly of feet. Additional manifestations include bilateral cutaneous syndactyly of first, second and third toes and occasionally cutaneous syndactyly of hands. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Agenesis of multiple tarsal bones Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterized by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterized by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital focal enlargement of rib Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by a variable combination of dental, cutaneous, ocular, and bone abnormalities, including pyramidal and fused molar roots, taurodontism, an abnormal upper lip without a cupid's bow and thickened and wide philtrum, juvenile glaucoma, syndactyly, and clinodactyly. There have been no further descriptions in the literature since 1973. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by a variable combination of dental, cutaneous, ocular, and bone abnormalities, including pyramidal and fused molar roots, taurodontism, an abnormal upper lip without a cupid's bow and thickened and wide philtrum, juvenile glaucoma, syndactyly, and clinodactyly. There have been no further descriptions in the literature since 1973. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by a variable combination of dental, cutaneous, ocular, and bone abnormalities, including pyramidal and fused molar roots, taurodontism, an abnormal upper lip without a cupid's bow and thickened and wide philtrum, juvenile glaucoma, syndactyly, and clinodactyly. There have been no further descriptions in the literature since 1973. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Crouzon disease is characterised by craniosynostosis and facial hypoplasia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Crouzon disease is characterised by craniosynostosis and facial hypoplasia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Ruptured spinal arteriovenous malformation Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare developmental defect during embryogenesis characterized by macrostomia or abnormal mouth contour, preauricular tags or pits, and uni- or bilateral ptosis due to external ophthalmoplegia. This syndrome belongs to the oculoauriculovertebral spectrum, a developmental disorder affecting the structures derived from the first and second branchial arches. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
A rare developmental defect during embryogenesis characterized by macrostomia or abnormal mouth contour, preauricular tags or pits, and uni- or bilateral ptosis due to external ophthalmoplegia. This syndrome belongs to the oculoauriculovertebral spectrum, a developmental disorder affecting the structures derived from the first and second branchial arches. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Senter syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Senter syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2

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