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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
Phylloid hypomelanosis (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital keratoconus (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lack of ossification of basioccipital bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital sequestration of lung (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Acommissural unicuspid aortic valve (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Crowding of posterior mandibular teeth (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Crowding of posterior mandibular teeth (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Congenital anomaly of the urinary tract proper (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Venous remnant Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Unicommissural unicuspid pulmonary valve (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hydronephrosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Incomplete ossification of zygomatic bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Widely spaced right coronary artery and left coronary artery orifices within single aortic sinus Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Widely spaced right coronary artery and left coronary artery orifices within single aortic sinus Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Microtia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital degeneration of nervous system Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Osteogenesis imperfecta, dominant perinatal lethal Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Wolcott-Rallison dysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Perimembranous ventricular septal defect with extension to right ventricular inlet Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Perimembranous ventricular septal defect with extension to right ventricular inlet Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital misalignment of centrum of thoracic vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ectodermal dysplasia with sweating defect (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ectodermal dysplasia with sweating defect (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital urethrovaginal fistula (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Congenital urethrovaginal fistula (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital transverse mandibular hypoplasia (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ear osseous meatus stricture Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital deformity of clavicle Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Familial adrenocortical hypoplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital absence of right testis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital urethral posterior valvular stricture Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Longitudinal deficiency of tarsal bone Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability. Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, genetic, syndromic hair shaft abnormality disorder characterised by short, dry, sulphur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Sacral spina bifida without hydrocephalus - open Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Sacral spina bifida without hydrocephalus - open Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Sacral spina bifida without hydrocephalus - open Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Congenital abnormal shape of lung (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital eventration of right crus of diaphragm Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal shape of pulmonary valve Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of fetus Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital absence of centrum of sacral vertebra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormal shape of pinna Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Mannosidosis, type II Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare ectodermal dysplasia syndrome characterized by the association of hypocalcified and hypoplastic tooth enamel, distal finger and toenail onycholysis with subungual hyperkeratosis, and functional hypohidrosis. Additional manifestations include seborrheic scalp dermatitis and rough, dry skin. Lacrimal punctum may be occasionally absent. There have been no further descriptions in the literature since 1975. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare ectodermal dysplasia syndrome characterized by the association of hypocalcified and hypoplastic tooth enamel, distal finger and toenail onycholysis with subungual hyperkeratosis, and functional hypohidrosis. Additional manifestations include seborrheic scalp dermatitis and rough, dry skin. Lacrimal punctum may be occasionally absent. There have been no further descriptions in the literature since 1975. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Straddling tricuspid valve Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Isomerism of left atrial appendage (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Isomerism of left atrial appendage (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aortic arch hypoplasia distal to subclavian artery (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital hypoplasia of renal pelvis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Agenesis of left kidney co-occurrent with congenital dysplasia of right kidney (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Agenesis of left kidney co-occurrent with congenital dysplasia of right kidney (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Extrapulmonary subpleural pulmonary sequestration (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital anomaly of ocular adnexa Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Maxillary dysostosis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Maxillary dysostosis Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Diffuse lymphatic malformation (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cicatricial junctional epidermolysis bullosa Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Café-au-lait macules with temporal dysrhythmia (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Café-au-lait macules with temporal dysrhythmia (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Byzanthine arch palate Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Byzanthine arch palate Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Byzanthine arch palate Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Longitudinal deficiency of radius AND ulna Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Longitudinal deficiency of radius AND ulna Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Phocomelia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital atresia of external auditory canal Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Bicornuate uterus - baby delivered Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital dilatation of inferior vena cava Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Accessory broad ligament Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare multiple congenital anomalies syndrome characterized by the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital brain aplasia (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Metaphyseal chondrodysplasia, Sedaghatian type (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital abnormality of oral cavity Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aortic orifice anterior right with respect to pulmonary orifice (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Aortic orifice anterior right with respect to pulmonary orifice (disorder) Pathological process (attribute) False Pathological developmental process Inferred relationship Some 2
Double inlet ventricle (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Inclusion body myopathy 2 (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Beaked pelvis Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital structural abnormality of orbit proper (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
A severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death. Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital ventricular septal defect Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Desbuquois syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Isolation of branch of aortic arch Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Accessory urethra Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cleft soft palate with right cleft lip and cleft of right alveolar process of maxilla Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Cleft soft palate with right cleft lip and cleft of right alveolar process of maxilla Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2

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