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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
273731000077117 congénital fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life false Inferred relationship Some
Congenital Is a Fetal and/or neonatal period true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Known OR suspected fetal hydrocephalus affecting obstetrical care Occurrence False Congenital Inferred relationship Some
Cleft lip Occurrence False Congenital Inferred relationship Some
Aplasia of cementum Occurrence False Congenital Inferred relationship Some
Congenital anomaly of thyroid cartilage Occurrence False Congenital Inferred relationship Some
Roger's disease Occurrence False Congenital Inferred relationship Some
Porokeratosis of Mibelli Occurrence False Congenital Inferred relationship Some
Complete bilateral cleft lip Occurrence False Congenital Inferred relationship Some
Neonatal hyperhistidinemia Occurrence False Congenital Inferred relationship Some
Uterus bicornuatus vetularum Occurrence False Congenital Inferred relationship Some
Spongy degeneration of central nervous system Occurrence False Congenital Inferred relationship Some
Aicardi's syndrome Occurrence False Congenital Inferred relationship Some
Juvenile pelvis Occurrence False Congenital Inferred relationship Some
Floating gallbladder Occurrence False Congenital Inferred relationship Some
Congenital spondylolysis of lumbosacral region Occurrence False Congenital Inferred relationship Some
Marinesco-Sjögren syndrome (disorder) Occurrence False Congenital Inferred relationship Some
Escobar syndrome Occurrence False Congenital Inferred relationship Some
Congenital stricture of vesicourethral orifice Occurrence False Congenital Inferred relationship Some
Congenital hypoplasia of lung Occurrence False Congenital Inferred relationship Some
Omphalomesenteric duct cyst Occurrence False Congenital Inferred relationship Some
Inherited methylmalonic acidemia AND homocystinuria Occurrence False Congenital Inferred relationship Some
Neutral 1 amino acid transport defect Occurrence False Congenital Inferred relationship Some
Ornithine carbamoyltransferase deficiency Occurrence True Congenital Inferred relationship Some 1
G-6-PD class V variant anemia Occurrence True Congenital Inferred relationship Some 4
Congenital anomaly of spinal cord Occurrence False Congenital Inferred relationship Some
Congenital atresia of vein Occurrence False Congenital Inferred relationship Some
Congenital diverticulum of urinary bladder (disorder) Occurrence False Congenital Inferred relationship Some
Congenital absence of hand Occurrence False Congenital Inferred relationship Some
Diffuse palmoplantar keratoderma Occurrence False Congenital Inferred relationship Some
Ectrodactyly Occurrence False Congenital Inferred relationship Some
Anomaly of tooth position Occurrence False Congenital Inferred relationship Some
7q partial monosomy Occurrence False Congenital Inferred relationship Some
Ischiomelus Occurrence False Congenital Inferred relationship Some
Polysyndactyly syndrome Occurrence False Congenital Inferred relationship Some
Congenital anomaly of abdominal wall Occurrence False Congenital Inferred relationship Some
Anomaly of chromosome Y Occurrence False Congenital Inferred relationship Some
Congenital opacity of vitreous body Occurrence False Congenital Inferred relationship Some
hydromyéloméningocèle Occurrence False Congenital Inferred relationship Some
Metatarsus primus varus Occurrence False Congenital Inferred relationship Some
Congenital anomaly of inferior vena cava (disorder) Occurrence False Congenital Inferred relationship Some
Mulibrey nanism syndrome (disorder) Occurrence False Congenital Inferred relationship Some
Autosomal anomaly characterised by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies. Occurrence False Congenital Inferred relationship Some
hémimélie d'un membre inférieur Occurrence False Congenital Inferred relationship Some 3
Opitz-Frias syndrome Occurrence False Congenital Inferred relationship Some
Beckwith-Wiedemann syndrome Occurrence False Congenital Inferred relationship Some
Polydactyly of fingers Occurrence False Congenital Inferred relationship Some 3
Alexander disease Occurrence False Congenital Inferred relationship Some 4
Dysmorphic sialidosis with renal involvement Occurrence False Congenital Inferred relationship Some 3
Cor biloculare Occurrence False Congenital Inferred relationship Some 3
G-6-PD class IV variant anemia Occurrence True Congenital Inferred relationship Some 4
Thoracoparacephalus Occurrence False Congenital Inferred relationship Some
débilité congénitale du fœtus Occurrence False Congenital Inferred relationship Some 1
A rare disorder that presents as a flat neural placode (at the level of the skin of the back) that is exposed to the environment. The lack of expansion of the subarachnoid space distinguishes this lesion from myelomeningocele. Occurrence False Congenital Inferred relationship Some
Congenital hydrocele Occurrence False Congenital Inferred relationship Some
Isolated levocardia Occurrence False Congenital Inferred relationship Some
A rare genetic mandibulofacial dysostosis characterized by bilateral symmetrical oto-mandibular dysplasia including underdeveloped cheekbones (malar hypoplasia), a very small low jaw (micrognathia) and downward-slanting palpebral fissures, coloboma of the lower eyelids, microtia, hearing loss and without abnormalities of the extremities. Intelligence is normal. Occurrence False Congenital Inferred relationship Some
Familial x-linked hypophosphatemic vitamin D refractory rickets Occurrence False Congenital Inferred relationship Some
Cobalamin B disease Occurrence False Congenital Inferred relationship Some
Hyperimmunoglobulin M syndrome Occurrence False Congenital Inferred relationship Some 1
Chronic granulomatous disease, type III Occurrence False Congenital Inferred relationship Some
Acyl-CoA dehydrogenase deficiency Occurrence True Congenital Inferred relationship Some 1
Late congenital syphilis (2 years or more) (disorder) Occurrence False Congenital Inferred relationship Some
XY females Occurrence False Congenital Inferred relationship Some
Yellow mutant oculocutaneous albinism Occurrence False Congenital Inferred relationship Some
Congenital infectious disease Occurrence False Congenital Inferred relationship Some
Multiple system malformation syndrome Occurrence False Congenital Inferred relationship Some
Endocardial fibroelastosis unassociated with other cardiac abnormalities. Occurrence False Congenital Inferred relationship Some
Giant esophagus Occurrence False Congenital Inferred relationship Some
Congenital stenosis of mitral valve Occurrence False Congenital Inferred relationship Some
Wolman's disease Occurrence True Congenital Inferred relationship Some 1
Embryonic cyst of Gartner's duct Occurrence False Congenital Inferred relationship Some
Congenital cystic kidney disease Occurrence False Congenital Inferred relationship Some
Congenital complete atrioventricular block Occurrence False Congenital Inferred relationship Some
Accessory urethra Occurrence False Congenital Inferred relationship Some
Segmental uterine aplasia Occurrence False Congenital Inferred relationship Some
Osteopathia striata Occurrence False Congenital Inferred relationship Some
A rare, genetic primary bone dysplasia of the spondylo-epi-metaphyseal dysplasia (SEMD) group characterized by progressive short-trunked dwarfism, protruding sternum, microcephaly, intellectual disability and pathognomonic radiological findings (generalized platyspondyly with double-humped end plates, irregularly ossified femoral heads, a hypoplastic odontoid, and a lace-like appearance of iliac crests). Occurrence False Congenital Inferred relationship Some
Late congenital syphilis, latent (+ sero., - C.S.F., 2 years OR more) Occurrence False Congenital Inferred relationship Some
Progressive myositis ossificans Occurrence False Congenital Inferred relationship Some
7p partial trisomy (disorder) Occurrence False Congenital Inferred relationship Some
Astragaloscaphoid synostosis Occurrence False Congenital Inferred relationship Some
Congenital anomaly of prostate Occurrence False Congenital Inferred relationship Some
Congenital atresia of extrahepatic bile duct Occurrence False Congenital Inferred relationship Some
Kenny syndrome Occurrence False Congenital Inferred relationship Some
Congenital absence of pancreas (disorder) Occurrence False Congenital Inferred relationship Some
Dementia paralytica juvenilis Occurrence False Congenital Inferred relationship Some
Amino acid deficiency (disorder) Occurrence False Congenital Inferred relationship Some
Caudal regression syndrome Occurrence False Congenital Inferred relationship Some
Saethre-Chotzen syndrome Occurrence False Congenital Inferred relationship Some
Congenital partial absence of alimentary tract Occurrence False Congenital Inferred relationship Some
Disorder of glycine metabolism Occurrence False Congenital Inferred relationship Some
Shprintzen syndrome Occurrence False Congenital Inferred relationship Some
Congenital insufficiency of tricuspid valve Occurrence False Congenital Inferred relationship Some
Eisenmenger's defect Occurrence False Congenital Inferred relationship Some
Abnormal dermatoglyphic pattern Occurrence False Congenital Inferred relationship Some
Congenital absence of adrenal gland Occurrence False Congenital Inferred relationship Some
Congenital anomaly of spermatic cord Occurrence False Congenital Inferred relationship Some
Patent ductus arteriosus Occurrence False Congenital Inferred relationship Some
syndrome d'Ehlers-Danlos type 1 Occurrence False Congenital Inferred relationship Some
coryza syphilitique congénital Occurrence False Congenital Inferred relationship Some
Congenital anomaly of breast Occurrence False Congenital Inferred relationship Some
Mixed gonadal dysgenesis Occurrence False Congenital Inferred relationship Some

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This concept is not in any reference sets

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