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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
Anomalous origin of left coronary artery and right coronary artery with dual orifices from aortic sinus to left of nonfacing aortic sinus Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Anomalous origin of left coronary artery and right coronary artery with dual orifices from aortic sinus to left of nonfacing aortic sinus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Acromicric dysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Acromicric dysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Acromicric dysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital thickening of rib Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Right ventricular outflow tract obstruction due to malaligned outlet septum (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital complete absence of upper limb (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with microcephaly, craniofacial dysmorphism, joint laxity and beaked nails. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with microcephaly, craniofacial dysmorphism, joint laxity and beaked nails. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
GM1 gangliosidosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Incomplete formation of bony cochlea Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
CHARGE syndrome is a multiple congenital anomaly syndrome characterised by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hypermobile Ehlers-Danlos syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Hypermobile Ehlers-Danlos syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hypermobile Ehlers-Danlos syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Arteriovenous malformation of frontonasal process Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Arteriovenous malformation of frontonasal process Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital abnormal shape of supraoccipital bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of parietal bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Incomplete ossification of interparietal bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital uterointestinal fistula Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital uterointestinal fistula Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Synchephalus twins Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Synchephalus twins Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
A rare, genetic dysostosis malformation syndrome characterized by skeletal dysplasia (rabbit ear-shaped iliac alae, delayed bone age, abnormalities of the vertebral bodies and schisis of the vertebral arches), seizures, short stature, cerebral atrophy and moderate to severe intellectual disability. Additional variable manifestations include corneal and retinal abnormalities, cataract, prognathism, dental malocclusion, brachydactyly, clinodactyly, slight generalized hypotonia and hyper extensible joints. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital cystic disease of liver Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital cystic disease of liver Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Anomalous origin of right coronary artery Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ehlers-Danlos syndrome, dominant type 4 Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Ehlers-Danlos syndrome, dominant type 4 Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Neonatal cutis laxa with marfanoid phenotype Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aplasia of the vermis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Structural developmental anomalies of neurenteric canal (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Horseshoe kidney Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare non-syndromic syndactyly characterized by complete bilateral cutaneous fusion of all fingers, frequently associated with polydactyly (usually involving six digits and six metacarpals). Phalanges may fuse as a conglomerate mass of bones. Feet are occasionally affected. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malposition of testis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cleft cartilaginous centrum of sacral vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
McCune Albright syndrome (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
McCune Albright syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
McCune Albright syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Ectopic thyroid tissue Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare leukodystrophy characterized by congenital thickened, wrinkled skin showing loss of elasticity, in combination with childhood onset of rapidly progressive generalized cognitive and motor impairment quickly resulting in a vegetative state and early death. Neuropathologic examination reveals neuroaxonal leukodystrophy with numerous neuroaxonal spheroids and diffuse loss of axons and myelin sheaths. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital fenestration of exoccipital bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ventricular imbalance (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital chordee Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of part of brain Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare multiple congenital anomalies syndrome characterized by intrauterine growth retardation (IUGR), postnatal failure to thrive, severe feeding difficulties, microcephaly/trigonocephaly, facial dysmorphism, a recognizable upper limb posture and severe developmental delay. The upper limb posture consists of internal rotation of the shoulders, flexion of the elbows, ulnar deviation of wrists and/or metacarpophalangeal joints. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare multiple congenital anomalies syndrome characterized by intrauterine growth retardation (IUGR), postnatal failure to thrive, severe feeding difficulties, microcephaly/trigonocephaly, facial dysmorphism, a recognizable upper limb posture and severe developmental delay. The upper limb posture consists of internal rotation of the shoulders, flexion of the elbows, ulnar deviation of wrists and/or metacarpophalangeal joints. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Zebra body myopathy (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Zebra body myopathy (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital stricture of urethra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Right ventricular outflow tract absent Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Right ventricular outflow tract absent Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities). Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Congenital abnormal fusion of centrum of sacral vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Sotos' syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital malformation syndromes affecting facial appearance Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Cleft of hard palate and cleft lip (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cleft of hard palate and cleft lip (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Malrotation of colon and caecum Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Malrotation of colon and caecum Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Crowding of teeth due to supernumerary teeth (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare frontonasal dysplasia characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin, nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, microcephaly, delayed bone maturation, and skeletal abnormalities (such as scoliosis or pectus excavatum, among others). Dysmorphic features include coarse face, hirsutism, thick eyebrows, broad nasal septum, short philtrum, large mouth, and prominent ears. There have been no further descriptions in the literature since 1996. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, microcephaly, delayed bone maturation, and skeletal abnormalities (such as scoliosis or pectus excavatum, among others). Dysmorphic features include coarse face, hirsutism, thick eyebrows, broad nasal septum, short philtrum, large mouth, and prominent ears. There have been no further descriptions in the literature since 1996. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, hypotonia, seizures, microcephaly, delayed bone maturation, and skeletal abnormalities (such as scoliosis or pectus excavatum, among others). Dysmorphic features include coarse face, hirsutism, thick eyebrows, broad nasal septum, short philtrum, large mouth, and prominent ears. There have been no further descriptions in the literature since 1996. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Dysosteosclerosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, life-threatening developmental defect during embryogenesis characterized by polysyndactyly of fingers and toes as well as complex congenital heart defects (e.g. atrioventricular septal defects, aortic dextroposition, single ventricle, hypo- or hypertrophy of one side of the heart). Additional features may include dysmorphic traits (large fontanel, high forehead, ptosis, hypertelorism, epicanthus, low-set malformed ears, prominent root of the nose, bulbous nose, anteverted nares, long and smooth philtrum, thin upper lip, micrognathism, hirsutism, single transverse crease) nail hypoplasia, phalange agenesis/hypoplasia, flexion contractures, polysplenia, multiple hepatic/renal cysts, atrophic biliary vesicle, ductal plate malformation and genital anomalies (e.g. micropenis, undescended testes, hypoplastic scrotum). The syndrome is usually fatal in utero or in infancy, but survival cases have been reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare, life-threatening developmental defect during embryogenesis characterized by polysyndactyly of fingers and toes as well as complex congenital heart defects (e.g. atrioventricular septal defects, aortic dextroposition, single ventricle, hypo- or hypertrophy of one side of the heart). Additional features may include dysmorphic traits (large fontanel, high forehead, ptosis, hypertelorism, epicanthus, low-set malformed ears, prominent root of the nose, bulbous nose, anteverted nares, long and smooth philtrum, thin upper lip, micrognathism, hirsutism, single transverse crease) nail hypoplasia, phalange agenesis/hypoplasia, flexion contractures, polysplenia, multiple hepatic/renal cysts, atrophic biliary vesicle, ductal plate malformation and genital anomalies (e.g. micropenis, undescended testes, hypoplastic scrotum). The syndrome is usually fatal in utero or in infancy, but survival cases have been reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, life-threatening developmental defect during embryogenesis characterized by polysyndactyly of fingers and toes as well as complex congenital heart defects (e.g. atrioventricular septal defects, aortic dextroposition, single ventricle, hypo- or hypertrophy of one side of the heart). Additional features may include dysmorphic traits (large fontanel, high forehead, ptosis, hypertelorism, epicanthus, low-set malformed ears, prominent root of the nose, bulbous nose, anteverted nares, long and smooth philtrum, thin upper lip, micrognathism, hirsutism, single transverse crease) nail hypoplasia, phalange agenesis/hypoplasia, flexion contractures, polysplenia, multiple hepatic/renal cysts, atrophic biliary vesicle, ductal plate malformation and genital anomalies (e.g. micropenis, undescended testes, hypoplastic scrotum). The syndrome is usually fatal in utero or in infancy, but survival cases have been reported. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital heart disease Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Microspherophakia (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Microspherophakia (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Giant ventricular septal defect Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Dumbbell ossification of centrum of thoracic vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malposition of arch of sacral vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, ectodermal dysplasia syndrome characterized by severe hand/foot anomalies, breast and/or nipple hypoplasia, and ectodermal dysplasia (principally teeth and nail anomalies). Cleft lip/palate may be variably present. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, genetic, ectodermal dysplasia syndrome characterized by severe hand/foot anomalies, breast and/or nipple hypoplasia, and ectodermal dysplasia (principally teeth and nail anomalies). Cleft lip/palate may be variably present. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
A rare, genetic, ectodermal dysplasia syndrome characterized by severe hand/foot anomalies, breast and/or nipple hypoplasia, and ectodermal dysplasia (principally teeth and nail anomalies). Cleft lip/palate may be variably present. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, ectodermal dysplasia syndrome characterized by severe hand/foot anomalies, breast and/or nipple hypoplasia, and ectodermal dysplasia (principally teeth and nail anomalies). Cleft lip/palate may be variably present. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Aberrant forearm flexor muscle Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Thoracoschisis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Anomalous origin of ductus arteriosus from aortic diverticulum (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ectopic ureterocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2

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