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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
Adenylosuccinate synthetase-like 1-related distal myopathy (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
POGLUT1-related limb girdle muscular dystrophy R21 Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Acquired subpulmonary stenosis associated with functionally univentricular heart Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Subpulmonary stenosis associated with functionally univentricular heart as complication of procedure (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Acquired subpulmonary stenosis due to restrictive ventricular defect associated with functionally univentricular heart Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Subaortic stenosis associated with functionally univentricular heart as complication of procedure Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Acquired subaortic stenosis associated with functionally univentricular heart (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Acquired subaortic stenosis due to restrictive ventricular septal defect associated with functionally univentricular heart Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Laryngeal abductor paralysis with intellectual disability syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Allan-Herndon-Dudley syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 5
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cardiospondylocarpofacial syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
X-linked agammaglobulinemia with growth hormone deficiency Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Kosaki overgrowth syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Kosaki overgrowth syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Persistent deciduous teeth (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Christianson syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
X-linked myopathy with postural muscle atrophy (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
X-linked neurodegenerative syndrome Hamel type (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Combined oxidative phosphorylation defect type 23 Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Pathological process (attribute) False Pathological developmental process Inferred relationship Some 3
Congenital generalized hypercontractile muscle stiffness syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Mulberry molar teeth Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Myotonic dystrophy (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Proximal myotonic myopathy (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital myotonic dystrophy Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Oral-facial-digital syndrome with short stature and brachymesophalangia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Oral-facial-digital syndrome with short stature and brachymesophalangia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Oral-facial-digital syndrome with short stature and brachymesophalangia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Oral-facial-digital syndrome with short stature and brachymesophalangia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Oral-facial-digital syndrome with short stature and brachymesophalangia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 6
Kallman syndrome with heart disease (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 6
Stafne idiopathic bone cavity of mandible Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 7
Dacryocystitis and osteopoikilosis syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
Ectodermal dysplasia trichoodontoonychial type (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 5
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Pathological process (attribute) True Pathological developmental process Inferred relationship Some 6
Metopic ridging, ptosis, facial dysmorphism syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Metopic ridging, ptosis, facial dysmorphism syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Colobomatous macrophthalmia with microcornea syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Colobomatous macrophthalmia with microcornea syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Colobomatous macrophthalmia with microcornea syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Colobomatous macrophthalmia with microcornea syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 4
LIMS2-related limb girdle muscular dystrophy Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Familial patent arterial duct Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
NEK9-related lethal skeletal dysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
NEK9-related lethal skeletal dysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Diffuse pulmonary lymphangiomatosis (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Lethal occipital encephalocele, skeletal dysplasia syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 6
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 7
albinisme oculaire avec surdité neurosensorielle congénitale Pathological process (attribute) False Pathological developmental process Inferred relationship Some 1
Congenital deficiency of cochlear nerve (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
FLNA-related X-linked myxomatous valvular dysplasia Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
GNB5-related intellectual disability, cardiac arrhythmia syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Growth delay, intellectual disability, hepatopathy syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Infantile inflammatory bowel disease with neurological involvement (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Gabriele-de Vries syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Developmental academic disorder due to iodine deficiency Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Developmental academic disorder due to iron deficiency (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Developmental academic disorder due to deficiency of micronutrients (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Developmental academic disorder due to nutritional stunting (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Non-specific syndromic intellectual disability Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Mucopolysaccharidosis-like plus disease Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Mucopolysaccharidosis-like plus disease Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Mucopolysaccharidosis-like plus disease Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 2
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder) Pathological process (attribute) True Pathological developmental process Inferred relationship Some 3
Stromme syndrome Pathological process (attribute) True Pathological developmental process Inferred relationship Some 1

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