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308490002: Pathological developmental process (qualifier value)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
451847013 Pathological developmental process en Synonym Active Case insensitive SNOMED CT core
705033019 Pathological developmental process (qualifier value) en Fully specified name Active Case insensitive 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
Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome Pathological process True Pathological developmental process Inferred relationship Some 5
RERE-related neurodevelopmental syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
TELO2-related intellectual disability, neurodevelopmental disorder Pathological process True Pathological developmental process Inferred relationship Some 1
TELO2-related intellectual disability, neurodevelopmental disorder Pathological process True Pathological developmental process Inferred relationship Some 2
Early-onset epilepsy, intellectual disability, brain anomalies syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
TBCK-related intellectual disability syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
SIX2-related frontonasal dysplasia Pathological process True Pathological developmental process Inferred relationship Some 1
SIX2-related frontonasal dysplasia Pathological process True Pathological developmental process Inferred relationship Some 2
Camptodactyly syndrome Guadalajara type 3 Pathological process True Pathological developmental process Inferred relationship Some 1
Camptodactyly syndrome Guadalajara type 3 Pathological process True Pathological developmental process Inferred relationship Some 2
Camptodactyly syndrome Guadalajara type 3 Pathological process True Pathological developmental process Inferred relationship Some 3
Split-foot malformation, mesoaxial polydactyly syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Split-foot malformation, mesoaxial polydactyly syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Split-foot malformation, mesoaxial polydactyly syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Thickened dental follicle Pathological process True Pathological developmental process Inferred relationship Some 1
Fried syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Incontinentia pigmenti syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Incontinentia pigmenti syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Incontinentia pigmenti syndrome Pathological process True Pathological developmental process Inferred relationship Some 4
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Prenatal-onset spinal muscular atrophy with congenital bone fractures Pathological process True Pathological developmental process Inferred relationship Some 1
Prenatal-onset spinal muscular atrophy with congenital bone fractures Pathological process True Pathological developmental process Inferred relationship Some 2
Propylthiouracil embryofetopathy Pathological process True Pathological developmental process Inferred relationship Some 1
CLCN4-related X-linked intellectual disability syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Adenylosuccinate synthetase-like 1-related distal myopathy Pathological process True Pathological developmental process Inferred relationship Some 1
Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome Pathological process True Pathological developmental process Inferred relationship Some 4
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Pathological process True Pathological developmental process Inferred relationship Some 1
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Pathological process True Pathological developmental process Inferred relationship Some 5
POGLUT1-related limb girdle muscular dystrophy R21 Pathological process True Pathological developmental process Inferred relationship Some 1
Lethal hydranencephaly, diaphragmatic hernia syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Lethal hydranencephaly, diaphragmatic hernia syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Lethal hydranencephaly, diaphragmatic hernia syndrome Pathological process True Pathological developmental process Inferred relationship Some 4
Acquired subpulmonary stenosis associated with functionally univentricular heart Pathological process True Pathological developmental process Inferred relationship Some 2
Subpulmonary stenosis associated with functionally univentricular heart as complication of procedure Pathological process True Pathological developmental process Inferred relationship Some 3
Acquired subpulmonary stenosis due to restrictive ventricular defect associated with functionally univentricular heart Pathological process True Pathological developmental process Inferred relationship Some 3
Subaortic stenosis associated with functionally univentricular heart as complication of procedure Pathological process True Pathological developmental process Inferred relationship Some 1
Acquired subaortic stenosis associated with functionally univentricular heart Pathological process True Pathological developmental process Inferred relationship Some 2
Acquired subaortic stenosis due to restrictive ventricular septal defect associated with functionally univentricular heart Pathological process True Pathological developmental process Inferred relationship Some 3
Laryngeal abductor paralysis with intellectual disability syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Allan-Herndon-Dudley syndrome Pathological process False Pathological developmental process Inferred relationship Some 5
Corneal dystrophy and perceptive deafness syndrome Pathological process True Pathological developmental process Inferred relationship Some 4
Corneal dystrophy and perceptive deafness syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Cardiospondylocarpofacial syndrome Pathological process True Pathological developmental process Inferred relationship Some 5
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
X-linked agammaglobulinaemia with growth hormone deficiency Pathological process True Pathological developmental process Inferred relationship Some 2
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Kosaki overgrowth syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Kosaki overgrowth syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
PMP22-RAI1 contiguous gene duplication syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
PMP22-RAI1 contiguous gene duplication syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Persistent deciduous teeth Pathological process True Pathological developmental process Inferred relationship Some 1
Christianson syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
X-linked myopathy with postural muscle atrophy Pathological process True Pathological developmental process Inferred relationship Some 1
X-linked neurodegenerative syndrome Hamel type Pathological process True Pathological developmental process Inferred relationship Some 2
Combined oxidative phosphorylation defect type 23 Pathological process True Pathological developmental process Inferred relationship Some 5
Arteriovenous malformation of stomach Pathological process True Pathological developmental process Inferred relationship Some 1117667545
Arteriovenous malformation of duodenum Pathological process True Pathological developmental process Inferred relationship Some 2010518525
Arteriovenous malformation of large intestine Pathological process True Pathological developmental process Inferred relationship Some 1571538946
Atrichia with papular lesions Pathological process True Pathological developmental process Inferred relationship Some 1539513574
Atrichia congenita Pathological process True Pathological developmental process Inferred relationship Some 1373189530
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Pathological process False Pathological developmental process Inferred relationship Some 3
Congenital generalised hypercontractile muscle stiffness syndrome Pathological process True Pathological developmental process Inferred relationship Some 3
Mulberry molar teeth Pathological process True Pathological developmental process Inferred relationship Some 1
Myotonic dystrophy Pathological process True Pathological developmental process Inferred relationship Some 1
Proximal myotonic myopathy Pathological process True Pathological developmental process Inferred relationship Some 1
Congenital myotonic dystrophy Pathological process True Pathological developmental process Inferred relationship Some 1
Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Congenital cerebellar ataxia due to RNU12 mutation Pathological process True Pathological developmental process Inferred relationship Some 1
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Intermediate epidermolysis bullosa simplex with cardiomyopathy Pathological process True Pathological developmental process Inferred relationship Some 2
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Oral-facial-digital syndrome with short stature and brachymesophalangia Pathological process True Pathological developmental process Inferred relationship Some 1
Oral-facial-digital syndrome with short stature and brachymesophalangia Pathological process True Pathological developmental process Inferred relationship Some 2
Oral-facial-digital syndrome with short stature and brachymesophalangia Pathological process True Pathological developmental process Inferred relationship Some 3
Oral-facial-digital syndrome with short stature and brachymesophalangia Pathological process True Pathological developmental process Inferred relationship Some 4
Oral-facial-digital syndrome with short stature and brachymesophalangia Pathological process True Pathological developmental process Inferred relationship Some 6
Kallman syndrome with heart disease Pathological process True Pathological developmental process Inferred relationship Some 6
Stafne idiopathic bone cavity of mandible Pathological process True Pathological developmental process Inferred relationship Some 1
GAPO syndrome Pathological process True Pathological developmental process Inferred relationship Some 7
Dacryocystitis and osteopoikilosis syndrome Pathological process True Pathological developmental process Inferred relationship Some 4
Ectodermal dysplasia trichoodontoonychial type Pathological process True Pathological developmental process Inferred relationship Some 5
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Pathological process True Pathological developmental process Inferred relationship Some 6
Metopic ridging, ptosis, facial dysmorphism syndrome Pathological process True Pathological developmental process Inferred relationship Some 1
Metopic ridging, ptosis, facial dysmorphism syndrome Pathological process True Pathological developmental process Inferred relationship Some 2
BVES-related limb girdle muscular dystrophy Pathological process True Pathological developmental process Inferred relationship Some 1
Colobomatous macrophthalmia with microcornea syndrome Pathological process True Pathological developmental process Inferred relationship Some 1

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