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308490002: Pathological developmental process (qualifier value)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
451847013 Pathological developmental process en Synonym Active Entire term case insensitive SNOMED CT core module
705033019 Pathological developmental process (qualifier value) en Fully specified name Active Entire term case insensitive SNOMED CT core module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Pathological developmental process Is a Pathological process true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Adenylosuccinate synthetase-like 1-related distal myopathy Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 4
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 5
Protein O-glucosyltransferase 1-related limb girdle muscular dystrophy R21 Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Lethal hydranencephaly, diaphragmatic hernia syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Lethal hydranencephaly, diaphragmatic hernia syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 3
Lethal hydranencephaly, diaphragmatic hernia syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 4
Acquired subpulmonary stenosis associated with functionally univentricular heart Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 2
Subpulmonary stenosis associated with functionally univentricular heart as complication of procedure Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 3
Acquired subpulmonary stenosis due to restrictive ventricular defect associated with functionally univentricular heart Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 3
Subaortic stenosis associated with functionally univentricular heart as complication of procedure Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Acquired subaortic stenosis associated with functionally univentricular heart Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 2
Acquired subaortic stenosis due to restrictive ventricular septal defect associated with functionally univentricular heart Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 3
Laryngeal abductor paralysis with intellectual disability syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Monocarboxylate transporter 8 deficiency Pathological process False Pathological developmental process Inferred relationship Existential restriction modifier 5
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 4
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Cardiospondylocarpofacial syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 5
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 2
X-linked agammaglobulinemia with growth hormone deficiency Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 2
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 2
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 3
Kosaki overgrowth syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Kosaki overgrowth syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 2
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 2
Persistent deciduous teeth Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
X-linked intellectual developmental disorder Christianson type Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
X-linked myopathy with postural muscle atrophy Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
X-linked neurodegenerative syndrome Hamel type Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 2
Combined oxidative phosphorylation defect type 23 Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 5
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Pathological process False Pathological developmental process Inferred relationship Existential restriction modifier 3
Congenital generalized hypercontractile muscle stiffness syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 3
Mulberry molar teeth Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Myotonic dystrophy Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Proximal myotonic myopathy Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Congenital myotonic dystrophy Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 2
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 2
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Intermediate epidermolysis bullosa simplex with cardiomyopathy Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 2
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Oral-facial-digital syndrome with short stature and brachymesophalangia Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Oral-facial-digital syndrome with short stature and brachymesophalangia Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 2
Oral-facial-digital syndrome with short stature and brachymesophalangia Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 3
Oral-facial-digital syndrome with short stature and brachymesophalangia Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 4
Oral-facial-digital syndrome with short stature and brachymesophalangia Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 6
Kallman syndrome with heart disease Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 6
Stafne idiopathic bone cavity of mandible Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 7
Dacryocystitis and osteopoikilosis syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 4
Ectodermal dysplasia trichoodontoonychial type Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 5
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 6
Metopic ridging, ptosis, facial dysmorphism syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Metopic ridging, ptosis, facial dysmorphism syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 2
Blood vessel epicardial substance related limb girdle muscular dystrophy Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Colobomatous macrophthalmia with microcornea syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Colobomatous macrophthalmia with microcornea syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 2
Colobomatous macrophthalmia with microcornea syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 3
Colobomatous macrophthalmia with microcornea syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 4
LIM zinc finger domain containing 2-related limb girdle muscular dystrophy Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Familial patent arterial duct Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
NIMA related kinase 9 lethal skeletal dysplasia Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
NIMA related kinase 9 lethal skeletal dysplasia Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 2
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Diffuse pulmonary lymphangiomatosis Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Lethal occipital encephalocele, skeletal dysplasia syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 6
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 7
Ocular albinism with congenital sensorineural deafness Pathological process False Pathological developmental process Inferred relationship Existential restriction modifier 1
Congenital deficiency of cochlear nerve Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Filamin A-related X-linked myxomatous valvular dysplasia Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 2
Growth delay, intellectual disability, hepatopathy syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Infantile inflammatory bowel disease with neurological involvement Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 3
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Gabriele-de Vries syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Developmental academic disorder due to iodine deficiency Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Developmental academic disorder due to iron deficiency Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Developmental academic disorder due to deficiency of micronutrients Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Developmental academic disorder due to nutritional stunting Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Non-specific syndromic intellectual disability Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 2
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Stromal antigen 1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Mucopolysaccharidosis-like plus disease Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Mucopolysaccharidosis-like plus disease Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 2
Mucopolysaccharidosis-like plus disease Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 3
Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 2
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 3
Stromme syndrome Pathological process True Pathological developmental process Inferred relationship Existential restriction modifier 1

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