255399007: Congenital (qualifier value)

SNOMED CT Concept\Qualifier value\...

\Precondition value (qualifier value)\Periods of life\Fetal and/or neonatal period\Congenital

\Special atomic mapping values\Special disorder atoms\Temporal periods\Periods of life\Fetal and/or neonatal period\Congenital

\Descriptor (qualifier value)\Time patterns\Temporal periods\Periods of life\Fetal and/or neonatal period\Congenital

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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. Bone marrow failure, fractures and visual impairment are the classical features of the disease, which begins in early infancy or in fetal life. It results from the failure of osteoclasts to resorb immature bone. This leads to abnormal bone marrow cavity formation and to the clinical signs and symptoms of bone marrow failure. It is accompanied by hepatosplenomegaly due to compensatory extramedullary hematopoiesis. The disease is heterogeneous. Over 50% of cases are due to mutations in the TCIRG1 gene and another 10% are due to mutations in the CLCN7 gene. A small number of patients have been described with mutations in the OSTM1 gene. Transmission is autosomal recessive.	Occurrence	False	Congenital	Inferred relationship	Some
Misfoster med kranieanomalier	Occurrence	False	Congenital	Inferred relationship	Some
Congenital anomaly of neck	Occurrence	False	Congenital	Inferred relationship	Some
Makrocolon	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
storage disease med glykogenophobning, type IX	Occurrence	False	Congenital	Inferred relationship	Some
enkelt blodkar i navlesnoren	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
Spondyloepifyseal dysplasi, ikke nærmere specificeret	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
Kongenit manglende underarm med hånd OG fingre	Occurrence	False	Congenital	Inferred relationship	Some
Pseudokryptorkisme	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
Omfaloflebit	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
Overtalligt ydre øre	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
Kongenitte fosteranomalier	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
Hyperimmunglobulin E-syndrom	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' syndrom, prokollagenproteinaseresistent	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
Skafocefali	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 with characteristics of 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. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation are less severely affected.	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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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
2235951000005117	kongenit	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)