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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
A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterised by a generalised skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterised by a generalised skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterised by a generalised skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Bloom syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ectodermal dysplasia with tooth-nail-sweating defect (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ectodermal dysplasia with tooth-nail-sweating defect (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Left pulmonary artery with absent proximal arterial connection (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lack of ossification of calcaneus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Muscular ventricular septal defect in trabecular septum (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Muscular ventricular septal defect in trabecular septum (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital deformity of toe (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hypoplasia of choroid Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of tarsal bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Epiphyseal dysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of thumb Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, neurologic signs and symptoms (such as seizures, spasticity, strabismus), characteristic dysmorphic facial features (including broad forehead, hypertelorism, downslanting palpebral fissures, broad and flat nasal bridge, midline notch of upper lip, lack of upper central incisors, incomplete oral cleft, and prominent mandible), and acne scars. Hearing impairment, pseudo-bulbar palsy, growth retardation, and skeletal anomalies (camptodactyly, clinodactyly, bilateral cubitus valgus, pes cavus/planus) have also been described. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital prolapsed rectum Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
X-linked intellectual disability, Armfield type is characterized by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Color changes during tooth formation Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Anomalous pulmonary venous drainage Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of maxilla Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Diphallus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Salmon patch naevus Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Salmon patch naevus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Nasal encephalocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
Nasal encephalocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 5
Nasal encephalocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Nasal encephalocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Nasal encephalocele Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare genetic ectodermal dysplasia syndrome characterised by woolly hair (presenting at birth), palmoplantar keratoderma (developing in the first year of life) and dilated cardiomyopathy with predominant left ventricle involvement (developing in childhood) which can lead to life-threatening heart failure in childhood or adolescence. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
A rare genetic ectodermal dysplasia syndrome characterised by woolly hair (presenting at birth), palmoplantar keratoderma (developing in the first year of life) and dilated cardiomyopathy with predominant left ventricle involvement (developing in childhood) which can lead to life-threatening heart failure in childhood or adolescence. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
A rare genetic ectodermal dysplasia syndrome characterised by woolly hair (presenting at birth), palmoplantar keratoderma (developing in the first year of life) and dilated cardiomyopathy with predominant left ventricle involvement (developing in childhood) which can lead to life-threatening heart failure in childhood or adolescence. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Natal tooth Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Left ventricular outflow tract obstruction due to prolapsed arterial valve (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Partial congenital absence of limb Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal shape of presphenoid bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Geographic retinal dysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of lacrimal bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital lobulation of kidney Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Fused tricuspid papillary muscle (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and psychomotor delay, Robin sequence (including severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophrys, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and psychomotor delay, Robin sequence (including severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophrys, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hyperplastic chondrodystrophy Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Hyperplastic chondrodystrophy Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrition and intestinal pseudo-obstruction. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrition and intestinal pseudo-obstruction. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Cervical hemivertebra- balanced Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cleft lip/palate-deafness-sacral lipoma syndrome is characterized by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non-consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cleft lip/palate-deafness-sacral lipoma syndrome is characterized by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non-consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Cleft lip/palate-deafness-sacral lipoma syndrome is characterized by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non-consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital hypoplasia of tympanic anulus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Left bronchial isomerism (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Disseminated superficial actinic porokeratosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital enlargement of fontanel Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital ectopic pupil (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Spondyloenchondromatosis with basal ganglia calcification (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Two chambered right ventricle Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Two chambered right ventricle Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Congenital abnormal fusion of basisphenoid bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Colloid cyst of third ventricle Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Colloid cyst of third ventricle Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Dyskeratosis congenita Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Abnormal ventriculoarterial connection Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of digestive system Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bowed tibia, radial anomaly, osteopenia, fracture syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Derencephalus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Pure gonadal dysgenesis 46,XY Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bruck syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Accessory urinary bladder (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Exstrophy of urinary bladder sequence Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Exstrophy of urinary bladder sequence Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Domed head Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Reifenstein syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Reifenstein syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Ventricular imbalance with dominant right ventricle and hypoplastic left ventricle (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Persistent primary vitreous Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Humeroradial synostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Humeroradial synostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital arteriovenous fistula haemorrhage Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital arteriovenous fistula haemorrhage Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3

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