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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 form of oculocutaneous albinism (OCA) characterized by a spectrum of hypopigmentation of skin hair and eyes, ranging from little or no pigmentation to localized pigmentation. Nystagmus, photophobia and reduced visual acuity are frequently present. The subtypes include OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A form of oculocutaneous albinism (OCA) characterized by a spectrum of hypopigmentation of skin hair and eyes, ranging from little or no pigmentation to localized pigmentation. Nystagmus, photophobia and reduced visual acuity are frequently present. The subtypes include OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital abnormality of uterus - baby delivered Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Hypoplasia of right ventricular inflow tract (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Platyspondylia Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Platyspondylia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of radius Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal fusion of arch of cervical vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Partial aphalangia of lower limb Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hypospadias, hypertelorism, coloboma, deafness syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Hypospadias, hypertelorism, coloboma, deafness syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Hypospadias, hypertelorism, coloboma, deafness syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Delta phalanx of finger Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare syndromic intellectual disability characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Absent left sided atrioventricular connection Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Absent ductus venosus with direct connection of umbilical vein to renal vein (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Absent ductus venosus with direct connection of umbilical vein to renal vein (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Absent ductus venosus with direct connection of umbilical vein to renal vein (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Dominant dystrophic epidermolysis bullosa with absence of skin Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Dominant dystrophic epidermolysis bullosa with absence of skin Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Bicornuate uterus in pregnancy, childbirth and the puerperium Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
High assimilation pelvis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
High assimilation pelvis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Neurologic form of cretinism Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Supernumerary centrum of lumbar vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Muscular ventricular septal defect in marginal septum Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital trigger thumb of bilateral hands Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital trigger thumb of bilateral hands Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Congenital alopecia with keratin cysts (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital alopecia with keratin cysts (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of supraoccipital bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malformation of larynx and trachea (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malformation of larynx and trachea (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital anomaly of tricuspid valve Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aorta to right ventricle tunnel Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Aorta to right ventricle tunnel Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Meningoencephalocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Meningoencephalocele Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Meningoencephalocele Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Congenital absence of genital tubercle Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare genetic disease characterized by bilateral Duane retraction syndrome type 3 (consisting of severe limitation of abduction, restriction of adduction, retraction of the globe, and narrowing of the palpebral fissure) and congenital myopathy manifesting as mild non-progressive hypotonia without muscular weakness, as well as delayed motor milestones, severe early-onset scoliosis, and short stature. Intelligence is normal. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
A rare genetic disease characterized by bilateral Duane retraction syndrome type 3 (consisting of severe limitation of abduction, restriction of adduction, retraction of the globe, and narrowing of the palpebral fissure) and congenital myopathy manifesting as mild non-progressive hypotonia without muscular weakness, as well as delayed motor milestones, severe early-onset scoliosis, and short stature. Intelligence is normal. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
A rare genetic disease characterized by bilateral Duane retraction syndrome type 3 (consisting of severe limitation of abduction, restriction of adduction, retraction of the globe, and narrowing of the palpebral fissure) and congenital myopathy manifesting as mild non-progressive hypotonia without muscular weakness, as well as delayed motor milestones, severe early-onset scoliosis, and short stature. Intelligence is normal. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare genetic disease characterized by bilateral Duane retraction syndrome type 3 (consisting of severe limitation of abduction, restriction of adduction, retraction of the globe, and narrowing of the palpebral fissure) and congenital myopathy manifesting as mild non-progressive hypotonia without muscular weakness, as well as delayed motor milestones, severe early-onset scoliosis, and short stature. Intelligence is normal. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Persistent Gartner's duct Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Persistent Gartner's duct Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Persistent Gartner's duct Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Melanosis oculi (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of vomer Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Complete cleft hard and soft palate Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Complete cleft hard and soft palate Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Atrioventricular septal defect with ventricular component under free floating superior bridging leaflet and chords to papillary muscle at right ventricular free wall (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Atrioventricular septal defect with ventricular component under free floating superior bridging leaflet and chords to papillary muscle at right ventricular free wall (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 4
Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal shape of tympanic anulus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital retraction of nipple Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Bilateral congenital deformity fingers Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Bilateral congenital deformity fingers Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cryptophthalmos (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
An inherited syndrome of skeletal and retinal malformations with early blindness as well as cataracts and retinal detachment. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Aplasia cutis congenita in association with epidermolysis bullosa (Type 6) (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Anomalous intramural course of proximal portion of coronary artery above aortic sinus (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aortic valve overriding ventricular septum (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Aortic valve overriding ventricular septum (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Supraorbital facial cleft - Tessier cleft 8 Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital malposition of ilium Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hallux varus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hypoplasia of part of brain Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S). Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Megacystis, microcolon, hypoperistalsis syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Megacystis, microcolon, hypoperistalsis syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Intralobar bronchopulmonary sequestration Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Intralobar bronchopulmonary sequestration Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Lack of ossification of frontal bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital macular changes Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Double outlet ventriculoarterial connections (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Scaphoid-lunate synostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Scaphoid-lunate synostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare syndromic mitochondrial disease characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare syndromic mitochondrial disease characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Generalised essential telangiectasia Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Generalised essential telangiectasia Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital anomaly of nasal turbinate Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Vitreoretinal dysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Vitreoretinal dysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lumbar spina bifida with hydrocephalus - closed Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lumbar spina bifida with hydrocephalus - closed Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Right-left orientation of bicuspid aortic valve (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Persisting fifth aortic arch with double barrell arch (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Persisting fifth aortic arch with double barrell arch (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Autosomal dominant epidermolysis bullosa simplex (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1

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