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255399007: Congenital (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
380598010 Congenital en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
380599019 Congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
135131000052119 medfödd sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Atrichia with papular lesions (disorder) Occurrence True Congenital Inferred relationship Some 2
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Occipital dysplasia Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive popliteal pterygium syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Autosomal recessive popliteal pterygium syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Shwachman syndrome Occurrence True Congenital Inferred relationship Some 2
kongenital ektodermal dysplasi av ansikte Occurrence False Congenital Inferred relationship Some 1
Vici syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Vici syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Vici syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Azygos lobe of lung Occurrence True Congenital Inferred relationship Some 1
Summitt syndrome Occurrence True Congenital Inferred relationship Some 2
Summitt syndrome Occurrence True Congenital Inferred relationship Some 1
Pulmonary trunk absent with absent right pulmonary artery (disorder) Occurrence True Congenital Inferred relationship Some 1
Absence of fingerprints with congenital milia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Centripetalis recessive dystrophic epidermolysis bullosa (disorder) Occurrence True Congenital Inferred relationship Some 1
Genochondromatosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Preductal aortic stenosis Occurrence True Congenital Inferred relationship Some 1
Overriding aorta Occurrence True Congenital Inferred relationship Some 1
Hydrocephalus with obesity and hypogonadism syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
syndrom med X-bunden intellektuell funktionsnedsättning, agenesi av corpus callosum och spastisk quadripares Occurrence False Congenital Inferred relationship Some 1
Congenital splenorenal shunt (disorder) Occurrence True Congenital Inferred relationship Some 1
Left ventricular outflow tract obstruction due to prolapse of Eustachian valve (disorder) Occurrence False Congenital Inferred relationship Some 1
Mammary digital nail syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Mammary digital nail syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Mammary digital nail syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Pulmonary tuberous sclerosis (disorder) Occurrence True Congenital Inferred relationship Some 1
Combined valvular-subvalvular pulmonic stenosis Occurrence True Congenital Inferred relationship Some 2
Trichorhinophalangeal dysplasia type III (disorder) Occurrence True Congenital Inferred relationship Some 1
Thoracoceloschisis Occurrence True Congenital Inferred relationship Some 3
Double inlet to ventricle of indeterminate morphology Occurrence True Congenital Inferred relationship Some 1
Congenital genu valgum Occurrence True Congenital Inferred relationship Some 1
Progressive non-infectious anterior vertebral fusion (disorder) Occurrence True Congenital Inferred relationship Some 1
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type D (disorder) Occurrence True Congenital Inferred relationship Some 1
Osteodysplastic primordial dwarfism, type 1 Occurrence True Congenital Inferred relationship Some 1
Alveolar capillary dysplasia with pulmonary venous misalignment (disorder) Occurrence True Congenital Inferred relationship Some 1
Duplex kidney with reflux in one ureter Occurrence True Congenital Inferred relationship Some 1
Incomplete ossification of metatarsal bone Occurrence True Congenital Inferred relationship Some 1
Atrioventricular septal defect - isolated ventricular component Occurrence True Congenital Inferred relationship Some 1
Multicentric osteolysis nodulosis arthropathy spectrum (disorder) Occurrence True Congenital Inferred relationship Some 2
Multicentric osteolysis nodulosis arthropathy spectrum (disorder) Occurrence True Congenital Inferred relationship Some 1
Arteriovenous malformation of mandible Occurrence True Congenital Inferred relationship Some 1
Chiari malformation type III Occurrence True Congenital Inferred relationship Some 1
Displaced Meckel's diverticulum Occurrence True Congenital Inferred relationship Some 1
Congenital oculocutaneous hypopigmentation Occurrence True Congenital Inferred relationship Some 1
Left ventricular outflow tract obstruction (disorder) Occurrence False Congenital Inferred relationship Some 1
Sacral spina bifida with hydrocephalus - open (disorder) Occurrence True Congenital Inferred relationship Some 1
Cole-Carpenter dysplasia (disorder) Occurrence False Congenital Inferred relationship Some 1
Severe X-linked intellectual disability Gustavson type (disorder) Occurrence True Congenital Inferred relationship Some 1
Severe X-linked intellectual disability Gustavson type (disorder) Occurrence True Congenital Inferred relationship Some 3
Severe X-linked intellectual disability Gustavson type (disorder) Occurrence True Congenital Inferred relationship Some 2
Craniometaphyseal dysplasia - mild type Occurrence False Congenital Inferred relationship Some 1
Craniometaphyseal dysplasia - mild type Occurrence True Congenital Inferred relationship Some 2
Peutz-Jeghers polyps of small bowel Occurrence True Congenital Inferred relationship Some 1
Congenital urethral syringocele Occurrence True Congenital Inferred relationship Some 1
Giant esophagus Occurrence True Congenital Inferred relationship Some 1
3C syndrome Occurrence True Congenital Inferred relationship Some 1
3C syndrome Occurrence True Congenital Inferred relationship Some 2
3C syndrome Occurrence True Congenital Inferred relationship Some 3
Walker-Warburg congenital muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Radial polydactyly Wassel 1 (disorder) Occurrence False Congenital Inferred relationship Some 1
Cryptotia (disorder) Occurrence True Congenital Inferred relationship Some 1
Koolen De Vries syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Bronchial atresia with segmental pulmonary emphysema Occurrence True Congenital Inferred relationship Some 2
Bronchial atresia with segmental pulmonary emphysema Occurrence True Congenital Inferred relationship Some 1
Langer-Giedion syndrome Occurrence True Congenital Inferred relationship Some 1
Lethal retarded ossification syndromes Occurrence True Congenital Inferred relationship Some 1
koanalatresi med CHARGE-syndrom Occurrence False Congenital Inferred relationship Some 1
Odonto-onychial dysplasia with alopecia Occurrence True Congenital Inferred relationship Some 3
Lack of ossification of tympanic anulus Occurrence True Congenital Inferred relationship Some 1
Cardiomyopathy and renal anomaly syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Constriction ring of upper limb with acrosyndactyly and amputation Occurrence True Congenital Inferred relationship Some 1
Triphalangeal thumb and dislocation of patella syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Splenogonadal fusion Occurrence True Congenital Inferred relationship Some 1
Congenital fistula of rectum and anus Occurrence True Congenital Inferred relationship Some 1
Congenital fecal fistula Occurrence True Congenital Inferred relationship Some 1
Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex (disorder) Occurrence False Congenital Inferred relationship Some 1
Dystrophic epidermolysis bullosa inverse type (disorder) Occurrence True Congenital Inferred relationship Some 1
Saethre-Chotzen syndrome Occurrence True Congenital Inferred relationship Some 2
Arterial dissection and lentiginosis syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
5-amino-4-imidazole carboxamide ribosiduria (disorder) Occurrence True Congenital Inferred relationship Some 1
Thymic, renal, anal, lung dysplasia syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Congenital muscular dystrophy Paradas type (disorder) Occurrence True Congenital Inferred relationship Some 1
Postductal coarctation of aorta Occurrence True Congenital Inferred relationship Some 1
Hydrolethalus syndrome (disorder) Occurrence False Congenital Inferred relationship Some 1
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Stenosis of infundibulum of right ventricle (disorder) Occurrence True Congenital Inferred relationship Some 1
X-linked intellectual disability Stevenson type (disorder) Occurrence True Congenital Inferred relationship Some 1
Schinzel-Giedion syndrome Occurrence True Congenital Inferred relationship Some 1
Charlie M syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1
Charlie M syndrome (disorder) Occurrence True Congenital Inferred relationship Some 2
Charlie M syndrome (disorder) Occurrence True Congenital Inferred relationship Some 3
Kohlschutter's syndrome Occurrence True Congenital Inferred relationship Some 3
Kohlschutter's syndrome Occurrence True Congenital Inferred relationship Some 2
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 1
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome Occurrence True Congenital Inferred relationship Some 2
Junctional epidermolysis bullosa mitis (disorder) Occurrence True Congenital Inferred relationship Some 1
Frank-Ter Haar syndrome (disorder) Occurrence True Congenital Inferred relationship Some 1

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