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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
Tricho-dento-osseous syndrome Occurrence False Congenital Inferred relationship Some
Brachyphalangia Occurrence False Congenital Inferred relationship Some
Lysinuric protein intolerance Occurrence False Congenital Inferred relationship Some
Interruption of aortic arch Occurrence False Congenital Inferred relationship Some
Propionyl-CoA carboxylase deficiency Occurrence False Congenital Inferred relationship Some
Glutathione synthase deficiency with 5-oxoprolinuria Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of spinal meninges Occurrence False Congenital Inferred relationship Some
Epidermolysis bullosa simplex of the hands and feet Occurrence False Congenital Inferred relationship Some
Subungual fibroma Occurrence False Congenital Inferred relationship Some
Fundus coloboma Occurrence False Congenital Inferred relationship Some
Niemann-Pick disease, type B Occurrence True Congenital Inferred relationship Some 1
Dolichocephalic dwarfism Occurrence False Congenital Inferred relationship Some
Pachyonychia congenita syndrome Occurrence False Congenital Inferred relationship Some
Thyroglossal duct cyst Occurrence False Congenital Inferred relationship Some
Congenital stricture of rectum Occurrence False Congenital Inferred relationship Some
Congenital atresia of vas deferens Occurrence False Congenital Inferred relationship Some
Redundant prepuce Occurrence False Congenital Inferred relationship Some
Congenital depression in skull Occurrence False Congenital Inferred relationship Some
Monocephalus Occurrence False Congenital Inferred relationship Some
Congenital hypoplasia of inner granular layer of cerebellum Occurrence False Congenital Inferred relationship Some
Hypoplasia of right heart Occurrence False Congenital Inferred relationship Some
Facio-auriculo-vertebral spectrum Occurrence False Congenital Inferred relationship Some
Transposition of intestine Occurrence False Congenital Inferred relationship Some
Gingival cyst of newborn Occurrence False Congenital Inferred relationship Some
Congenital atresia of nares Occurrence False Congenital Inferred relationship Some
Ectrodactyly-ectodermal dysplasia-clefting syndrome Occurrence False Congenital Inferred relationship Some
Hand-Schüller-Christian disease Occurrence False Congenital Inferred relationship Some
Ochronotic arthritis Occurrence False Congenital Inferred relationship Some
Congenital absence of trachea Occurrence False Congenital Inferred relationship Some
Scimitar syndrome Occurrence False Congenital Inferred relationship Some
Disorder of fatty acid metabolism Occurrence True Congenital Inferred relationship Some 1
Cornea globular Occurrence False Congenital Inferred relationship Some
Congenital absence of right pulmonary artery Occurrence False Congenital Inferred relationship Some
Congenital hyperplasia of intrahepatic bile duct Occurrence False Congenital Inferred relationship Some
Infantile malignant osteopetrosis Occurrence False Congenital Inferred relationship Some
Monster with cranial anomalies Occurrence False Congenital Inferred relationship Some
Congenital anomaly of neck Occurrence False Congenital Inferred relationship Some
Macrocolon Occurrence False Congenital Inferred relationship Some
Spina bifida without hydrocephalus Occurrence False Congenital Inferred relationship Some 5
Papillon-Lefèvre syndrome Occurrence False Congenital Inferred relationship Some
Congenital macrostomia Occurrence False Congenital Inferred relationship Some
Glycogen storage disease, type IX Occurrence False Congenital Inferred relationship Some
Single vessel of umbilical cord Occurrence False Congenital Inferred relationship Some
Chronic granulomatous disease, type IA Occurrence False Congenital Inferred relationship Some
Floating liver Occurrence False Congenital Inferred relationship Some
Polydactyly Occurrence False Congenital Inferred relationship Some
Congenital absence of coronary sinus Occurrence False Congenital Inferred relationship Some
Gemination of teeth Occurrence False Congenital Inferred relationship Some
Mietens syndrome Occurrence False Congenital Inferred relationship Some
4-Hydroxyphenylpyruvate dioxygenase deficiency Occurrence False Congenital Inferred relationship Some
Annular pancreas Occurrence False Congenital Inferred relationship Some
Double auditory canal Occurrence False Congenital Inferred relationship Some
De Lange syndrome Occurrence False Congenital Inferred relationship Some
12q partial trisomy syndrome Occurrence False Congenital Inferred relationship Some
Incontinentia pigmenti syndrome Occurrence False Congenital Inferred relationship Some
Congenital anomaly of macula Occurrence False Congenital Inferred relationship Some
Mongolian spot Occurrence False Congenital Inferred relationship Some
Fanconi syndrome Occurrence False Congenital Inferred relationship Some
Spondyloepiphyseal dysplasia congenita Occurrence False Congenital Inferred relationship Some
Gyrate atrophy of the choroid and retina Occurrence False Congenital Inferred relationship Some
Congenital absence of vein Occurrence False Congenital Inferred relationship Some
Congenital absence of forearm with hand AND fingers Occurrence False Congenital Inferred relationship Some
Pseudocryptorchism Occurrence False Congenital Inferred relationship Some
Congenital hepatomegaly Occurrence False Congenital Inferred relationship Some
Persistent hyperphenylalaninaemia AND tyrosinaemia Occurrence True Congenital Inferred relationship Some 1
Metachromatic leucodystrophy, congenital type Occurrence False Congenital Inferred relationship Some
Sulfite oxidase deficiency syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of the haematopoietic system Occurrence False Congenital Inferred relationship Some
Naevus anaemicus Occurrence False Congenital Inferred relationship Some
Primary hyperoxaluria, type II Occurrence True Congenital Inferred relationship Some 1
Argininosuccinate lyase deficiency Occurrence True Congenital Inferred relationship Some 1
Omphalophlebitis Occurrence False Congenital Inferred relationship Some
Complete trisomy 21 syndrome Occurrence False Congenital Inferred relationship Some
Holoacardius amorphus Occurrence False Congenital Inferred relationship Some
Pre-eruptive colour change of tooth Occurrence False Congenital Inferred relationship Some
Langer-Giedion syndrome Occurrence False Congenital Inferred relationship Some
Dicephalus tripus tribrachius Occurrence False Congenital Inferred relationship Some
Globoid cell leucodystrophy, late-onset Occurrence False Congenital Inferred relationship Some 3
Supernumerary external ear Occurrence False Congenital Inferred relationship Some
Congenital abnormality of uterus, affecting pregnancy Occurrence False Congenital Inferred relationship Some
Congenital oesophagobronchial fistula Occurrence False Congenital Inferred relationship Some
Cerebro-oculo-facio-skeletal syndrome Occurrence False Congenital Inferred relationship Some
Conjoined twins Occurrence False Congenital Inferred relationship Some
11p partial monosomy syndrome Occurrence False Congenital Inferred relationship Some
Macrodactyly of toes Occurrence False Congenital Inferred relationship Some
Congenital anomalies of fetus Occurrence False Congenital Inferred relationship Some
Multiple malformation syndrome with limb defect as major feature Occurrence False Congenital Inferred relationship Some
Uterus acollis Occurrence False Congenital Inferred relationship Some
Multiple malformation syndrome, small stature, without skeletal dysplasia Occurrence False Congenital Inferred relationship Some
Disseminated superficial actinic porokeratosis Occurrence False Congenital Inferred relationship Some
Congenital supravalvular mitral stenosis Occurrence False Congenital Inferred relationship Some
Congenital hypertrophy of sphenoid bone Occurrence False Congenital Inferred relationship Some
Glycogen storage disease type VIII Occurrence True Congenital Inferred relationship Some 1
Hyperimmunoglobulin E syndrome Occurrence False Congenital Inferred relationship Some
Mucopolysaccharidosis, MPS-III-A Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of upper respiratory system Occurrence False Congenital Inferred relationship Some
Congenital anomaly of lacrimal gland Occurrence False Congenital Inferred relationship Some
Leri's pleonosteosis syndrome Occurrence False Congenital Inferred relationship Some
Ehlers-Danlos syndrome, procollagen proteinase resistant Occurrence False Congenital Inferred relationship Some
Horseshoe kidney Occurrence False Congenital Inferred relationship Some
5,10-Methylenetetrahydrofolate reductase deficiency Occurrence True Congenital Inferred relationship Some 1

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Reference Sets

Qualifier value foundation reference set

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