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255399007: Congenital (qualifier value)

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

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym Active Case insensitive SNOMED CT core
380599019 Congenita en Synonym Active Case insensitive SNOMED CT core
646433016 Congenital (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
Congenital Is a Periods of life true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal dominant muscular dystrophy not predominantly limb girdle Occurrence True Congenital Inferred relationship Some 1
X-linked limb girdle muscular dystrophy with normal dystrophin Occurrence True Congenital Inferred relationship Some 1
Becker muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Benign scapuloperoneal muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Congenital muscular hypertrophy-cerebral syndrome Occurrence True Congenital Inferred relationship Some 1
Ji muscular dystrophy Occurrence False Congenital Inferred relationship Some 1
Fukuyama congenital muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Hereditary myopathy limited to females Occurrence True Congenital Inferred relationship Some 1
Facioscapulohumeral muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Merosin deficient congenital muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Megalocornea, spherophakia, secondary glaucoma syndrome Occurrence True Congenital Inferred relationship Some 1
Agenesis of body of uterus Occurrence True Congenital Inferred relationship Some 1
Aplasia of body of uterus Occurrence True Congenital Inferred relationship Some 1
X-linked muscular dystrophy not predominantly limb girdle Occurrence True Congenital Inferred relationship Some 1
X-linked muscular dystrophy with limb girdle distribution Occurrence True Congenital Inferred relationship Some 1
Hyperimmunoglobulin M syndrome with susceptibility to opportunistic infection Occurrence True Congenital Inferred relationship Some 1
Benign scapuloperoneal muscular dystrophy with cardiomyopathy Occurrence False Congenital Inferred relationship Some 1
Hutterite type of muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
X-linked muscular dystrophy with abnormal dystrophin Occurrence True Congenital Inferred relationship Some 1
Scapulohumeral muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive muscular dystrophy not predominantly limb girdle Occurrence True Congenital Inferred relationship Some 1
Congenital hereditary muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Intermediate X-linked muscular dystrophy Occurrence True Congenital Inferred relationship Some 1
Hereditary isolated aplastic anaemia Occurrence True Congenital Inferred relationship Some 1
Hereditary persistence of fetal haemoglobin with sickle cell disease syndrome Occurrence True Congenital Inferred relationship Some 1
McCune Albright syndrome Occurrence False Congenital Inferred relationship Some 4
Osteomesopycnosis Occurrence False Congenital Inferred relationship Some 3
Osteosclerosis Occurrence True Congenital Inferred relationship Some 1
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria Occurrence True Congenital Inferred relationship Some 3
Female pseudohermaphroditism Occurrence True Congenital Inferred relationship Some 1
Autosomal recessive cutis laxa type 2B Occurrence True Congenital Inferred relationship Some 3
Encephalocele Occurrence True Congenital Inferred relationship Some 1
Localised abdominal wall skin atrophy Occurrence False Congenital Inferred relationship Some 2
Nasal encephalocele Occurrence True Congenital Inferred relationship Some 1
Nasal encephalocele Occurrence False Congenital Inferred relationship Some 2
Hydromyelocele Occurrence False Congenital Inferred relationship Some 1
Hydromyelia Occurrence True Congenital Inferred relationship Some 1
Congenital tracheobronchomegaly Occurrence True Congenital Inferred relationship Some 2
Congenital tracheobronchomegaly Occurrence True Congenital Inferred relationship Some 1
Microcystic renal disease Occurrence True Congenital Inferred relationship Some 1
Hydromeningomyelocele Occurrence False Congenital Inferred relationship Some 3
Congenital honeycomb lung Occurrence True Congenital Inferred relationship Some 1
Congenital cystic lung Occurrence True Congenital Inferred relationship Some 1
Congenital spastic foot Occurrence True Congenital Inferred relationship Some 1
Congenital spastic foot Occurrence True Congenital Inferred relationship Some 2
Congenital deaf mutism Occurrence True Congenital Inferred relationship Some 1
Complete cleft of hard palate Occurrence True Congenital Inferred relationship Some 1
Bilateral incomplete cleft lip and bilateral incomplete cleft of alveolar process of maxilla Occurrence True Congenital Inferred relationship Some 3
Multiple congenital cardiac defects Occurrence True Congenital Inferred relationship Some 1
Incomplete bilateral cleft palate Occurrence True Congenital Inferred relationship Some 2
Congenital sensorineural hearing loss Occurrence True Congenital Inferred relationship Some 1
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Occurrence True Congenital Inferred relationship Some 1
Incomplete cleft palate Occurrence True Congenital Inferred relationship Some 1
Cystic testicular dysplasia Occurrence True Congenital Inferred relationship Some 2
Aortic orifice left side by side with respect to pulmonary orifice Occurrence True Congenital Inferred relationship Some 1
Reunion Island Larsen-like syndrome Occurrence False Congenital Inferred relationship Some 1
Reunion Island Larsen-like syndrome Occurrence False Congenital Inferred relationship Some 3
Reunion Island Larsen-like syndrome Occurrence False Congenital Inferred relationship Some 2
Inferior vena cava connecting to morphological left atrium Occurrence True Congenital Inferred relationship Some 1
Retro-oesophageal pulmonary artery Occurrence True Congenital Inferred relationship Some 1
Aortic orifice anterior left with respect to pulmonary orifice Occurrence True Congenital Inferred relationship Some 1
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication Occurrence True Congenital Inferred relationship Some 1
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication Occurrence True Congenital Inferred relationship Some 2
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication Occurrence True Congenital Inferred relationship Some 3
Stomach in central position Occurrence True Congenital Inferred relationship Some 1
Aortic orifice posterior with respect to pulmonary orifice Occurrence True Congenital Inferred relationship Some 1
Developmental displacement of brachial plexus Occurrence True Congenital Inferred relationship Some 1
Aortic orifice anterior right with respect to pulmonary orifice Occurrence True Congenital Inferred relationship Some 1
Severe combined immunodeficiency due to LCK deficiency Occurrence True Congenital Inferred relationship Some 1
Aortic orifice right side by side with respect to pulmonary orifice Occurrence True Congenital Inferred relationship Some 1
Intrahepatic gallbladder Occurrence True Congenital Inferred relationship Some 1
Aortic orifice posterior left with respect to pulmonary orifice Occurrence True Congenital Inferred relationship Some 1
Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome Occurrence True Congenital Inferred relationship Some 2
Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome Occurrence True Congenital Inferred relationship Some 1
Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome Occurrence True Congenital Inferred relationship Some 3
Aortic orifice anterior with respect to pulmonary orifice Occurrence True Congenital Inferred relationship Some 1
Right-sided pulmonary arterial trunk Occurrence True Congenital Inferred relationship Some 1
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome Occurrence True Congenital Inferred relationship Some 4
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome Occurrence True Congenital Inferred relationship Some 1
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome Occurrence True Congenital Inferred relationship Some 3
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome Occurrence True Congenital Inferred relationship Some 2
Juxtaposed atrial appendage Occurrence True Congenital Inferred relationship Some 1
Malalignment of aortic sinus in relation to pulmonary sinus Occurrence True Congenital Inferred relationship Some 1
Combined oxidative phosphorylation defect type 11 Occurrence True Congenital Inferred relationship Some 1
Mixed sclerosing bone dystrophy with extra-skeletal manifestation Occurrence True Congenital Inferred relationship Some 1
Fetal spina bifida Occurrence False Congenital Inferred relationship Some 2
Fetal spina bifida Occurrence False Congenital Inferred relationship Some 1
Fetal hydrocephalus Occurrence False Congenital Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 13 Occurrence False Congenital Inferred relationship Some 1
Hereditary hyperekplexia Occurrence True Congenital Inferred relationship Some 2
Syndactyly, polydactyly, ear lobe syndrome Occurrence True Congenital Inferred relationship Some 3
Syndactyly, polydactyly, ear lobe syndrome Occurrence True Congenital Inferred relationship Some 4
Syndactyly, polydactyly, ear lobe syndrome Occurrence True Congenital Inferred relationship Some 2
Syndactyly, polydactyly, ear lobe syndrome Occurrence True Congenital Inferred relationship Some 1
Port-wine naevi, mega cisterna magna, hydrocephalus syndrome Occurrence True Congenital Inferred relationship Some 3
Port-wine naevi, mega cisterna magna, hydrocephalus syndrome Occurrence True Congenital Inferred relationship Some 1
Port-wine naevi, mega cisterna magna, hydrocephalus syndrome Occurrence True Congenital Inferred relationship Some 2
Paternal uniparental disomy of chromosome X Occurrence True Congenital Inferred relationship Some 1
Dominant hypophosphataemia with nephrolithiasis and/or osteoporosis Occurrence True Congenital Inferred relationship Some 1
X-linked intellectual disability due to GRIA3 mutations Occurrence True Congenital Inferred relationship Some 1

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Reference Sets

Qualifier value foundation reference set

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