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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
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
A rare congenital disorder of bone resorption characterised by generalised skeletal densification. 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
vaisseau unique du cordon ombilical 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 (disorder) 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/OR retina (disorder) 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 hyperphenylalaninemia AND tyrosinemia Occurrence True Congenital Inferred relationship Some 1
Metachromatic leukodystrophy, congenital type Occurrence False Congenital Inferred relationship Some
Sulfite oxidase deficiency syndrome Occurrence True Congenital Inferred relationship Some 1
Congenital anomaly of the hematopoietic system Occurrence False Congenital Inferred relationship Some
Nevus anemicus 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 color 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 leukodystrophy, late-onset Occurrence True 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 esophagobronchial 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 toe (disorder) Occurrence False Congenital Inferred relationship Some
anomalies fœtales congénitales 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
syndrome d'Ehlers-Danlos de type 7B 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
Congenital absence of foot Occurrence False Congenital Inferred relationship Some
Congenital anomaly of endocrine gland Occurrence False Congenital Inferred relationship Some
Congenital anomaly of genital organ Occurrence False Congenital Inferred relationship Some
Symbrachydactyly Occurrence False Congenital Inferred relationship Some
Left ventricular-right atrial communication Occurrence False Congenital Inferred relationship Some
Longitudinal deficiency of carpal bone Occurrence False Congenital Inferred relationship Some
Digital fibromatosis Occurrence False Congenital Inferred relationship Some
Scaphycephaly Occurrence False Congenital Inferred relationship Some
Paraumbilical hernia with gangrene AND obstruction Occurrence False Congenital Inferred relationship Some
Congenital duplication of anus Occurrence False Congenital Inferred relationship Some
Oligohydramnios sequence Occurrence False Congenital Inferred relationship Some
18p partial trisomy syndrome Occurrence False Congenital Inferred relationship Some
Neuronal ceroid lipofuscinosis Occurrence True Congenital Inferred relationship Some 2
Congenital fusion of kidneys Occurrence False Congenital Inferred relationship Some
Congenital varus deformity of foot Occurrence False Congenital Inferred relationship Some
A type of pseudohypoparathyroidism with characteristics of resistance to parathyroid hormone (PTH), which manifests with hypocalcaemia, hyperphosphataemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy and normal expression of the Gs protein with a normal urinary cAMP response. To date no specific genetic alteration responsible for this disorder has been detected. It has been hypothesised that in most cases it may be an acquired defect secondary to vitamin D deficiency such as in misdiagnosed secondary renal hyperparathyroidism. Occurrence False Congenital Inferred relationship Some
Congenital absence of abdominal muscle Occurrence False Congenital Inferred relationship Some
Cochleate uterus Occurrence False Congenital Inferred relationship Some
Eruption cyst of jaw Occurrence False Congenital Inferred relationship Some
Congenital duplication of cecum Occurrence False Congenital Inferred relationship Some
Occipital encephalocele Occurrence False Congenital Inferred relationship Some
Methylmalonic acidemia Occurrence False Congenital Inferred relationship Some
Kartagener syndrome Occurrence False Congenital Inferred relationship Some
18q partial monosomy syndrome Occurrence False Congenital Inferred relationship Some
Juvenile neurosyphilis Occurrence False Congenital Inferred relationship Some
A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival. Occurrence False Congenital Inferred relationship Some
HNSHA due to hexokinase deficiency Occurrence True Congenital Inferred relationship Some 4
Cystinuria, type 3 Occurrence False Congenital Inferred relationship Some
Xeroderma pigmentosum, group F Occurrence False Congenital Inferred relationship Some
Familial type 3 hyperlipoproteinemia Occurrence False Congenital Inferred relationship Some

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