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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
Discordant ventriculoarterial connection Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare syndrome characterized by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare syndrome characterized by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare syndrome characterized by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Persistent thyroglossal duct Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Persistent thyroglossal duct Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Nager syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Nager syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital laryngeal stridor Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital vascular anomaly of upper eyelid Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Congenital vascular anomaly of upper eyelid Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of urethra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital adhesions of peritoneum Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Urachal sinus (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Female pseudohermaphroditism Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Female pseudohermaphroditism Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Female pseudohermaphroditism Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
kyste cérébral congénital unique Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital bent pubis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Encephalocele of orbit Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Encephalocele of orbit Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Encephalocele of orbit Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and severe cerebral cortical atrophy associated with pontocerebellar hypoplasia with the pons and cerebellum equally affected. Clinically the disorder manifests at birth with hypotonia, clonus, epilepsy, impaired swallowing and from infancy by progressive microcephaly, spasticity and lactic acidosis. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, genetic form of pontocerebellar hypoplasia (PCH) characterized by neocortical and severe cerebral cortical atrophy associated with pontocerebellar hypoplasia with the pons and cerebellum equally affected. Clinically the disorder manifests at birth with hypotonia, clonus, epilepsy, impaired swallowing and from infancy by progressive microcephaly, spasticity and lactic acidosis. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormality of ductus arteriosus (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Generalized macrodontia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Beals auriculo-osteodysplasia syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Omphalomesenteric duct cyst Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal fusion of exoccipital bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of skin Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Indeterminate sex and pseudohermaphroditism Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Malrotation of colon Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Retroaortic brachiocephalic vein (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Retroaortic brachiocephalic vein (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Blepharophimosis syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Tilted optic disc Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Muscle-eye-brain disease, congenital muscular dystrophy Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Muscle-eye-brain disease, congenital muscular dystrophy Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Incomplete ossification of centrum of sacral vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Fronto-naso-ethmoidal dysostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Fronto-naso-ethmoidal dysostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Fronto-naso-ethmoidal dysostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Tarsal-carpal coalition syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare primary bone dysplasia characterized by global developmental delay, hypotonia, ossification anomalies of the cranial vault, abnormalities of the long bones due to defective remodeling, thoracic deformity, and progressive osteopenia. Dysmorphic craniofacial features include microcephaly, hypertelorism, narrow mouth, cleft palate, and micrognathia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare primary bone dysplasia characterized by global developmental delay, hypotonia, ossification anomalies of the cranial vault, abnormalities of the long bones due to defective remodeling, thoracic deformity, and progressive osteopenia. Dysmorphic craniofacial features include microcephaly, hypertelorism, narrow mouth, cleft palate, and micrognathia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
incurvation posturale congénitale de la colonne vertébrale Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Persistent aortic arch convolutions Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malposition of pubis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Microphthalmia with brain and digit anomalies is characterized by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Basan syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Basan syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Acrocephalosyndactyly type V (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Acrocephalosyndactyly type V (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Complete duplication of appendix Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Anomalous origin of right coronary artery from left coronary artery aortic sinus and anomalous origin of left coronary artery from right coronary artery aortic sinus (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Anomalous origin of right coronary artery from left coronary artery aortic sinus and anomalous origin of left coronary artery from right coronary artery aortic sinus (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Lack of ossification of rib Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A congenital developmental abnormality of the jejunum where there is a gap in the intestine due to a mesenteric defect associated with abnormal mesenteric arterial supply and a distal intestinal segment spiral deformity, frequently described as having an apple peel appearance; the intestine is reduced in length. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Anomalous origin of coronary artery Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Malformation of urachus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Cervical spinal hydromeningocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
Cervical spinal hydromeningocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Cervical spinal hydromeningocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Interrupted aortic arch between left common carotid and brachiocephalic artery Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Abnormal communication between pericardial sac and peritoneal cavity Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Abnormal communication between pericardial sac and peritoneal cavity Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Incomplete cleft of soft palate Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly in number of teeth (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Laryngeal hypoplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterised by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterised by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterised by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of liver and/or gallbladder (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hypoplasia of tricuspid valve Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Multirooted tooth with divergent roots Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of ulna Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Imperforate right ventriculoarterial valve Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
A rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital cleft of posterior cricoid cartilage Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Pseudo-Hurler polydystrophy Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1

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