78626001: Congenital anomaly of trunk (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Congenital anomaly of trunk

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk

Status: current, 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 anomaly of trunk	Is a	Congenital disease	false	Inferred relationship	Some
Congenital anomaly of trunk	Is a	Disorder of trunk (disorder)	true	Inferred relationship	Some
Congenital anomaly of trunk	Finding site	Trunk structure	true	Inferred relationship	Some	1
Congenital anomaly of trunk	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of trunk	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of trunk	Finding site	Trunk structure	false	Inferred relationship	Some	1
Congenital anomaly of trunk	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of trunk	Is a	kongenit anomali	false	Inferred relationship	Some
Congenital anomaly of trunk	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of trunk	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Congenital anomaly of trunk	Finding site	Trunk structure	false	Inferred relationship	Some	2
Congenital anomaly of trunk	Is a	Congenital malformation	true	Inferred relationship	Some
Congenital anomaly of trunk	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of trunk	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital anomaly of trunk	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cystinosis	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Thoracic spina bifida with hydrocephalus	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Sacral agenesis	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Congenital viral hepatitis	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Spinobulbær atrofi	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Enamel-renal syndrome	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Infantile botulism	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Splenoportal vascular anomaly	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Truncal arteriovenous fistula	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder)	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
An autosomal recessive subtype of primary pulmonary hypertension which has histological characteristics of widespread fibrous intimal proliferation of septal veins and preseptal venules. There is frequent association with pulmonary capillary dilatation and proliferation and the disease can cause occult alveolar haemorrhage.	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Dibasic aminoaciduria	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Congenital renal artery aneurysm	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Dilated cardiomyopathy due to phytanic acid storage disease	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
lokaliseret hudatrofi på abdominalvæggen	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Sammenvoksede tvillinger, der forårsager mekanisk misforhold	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Syringomyelia	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Myelodysplasia of spinal cord	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Neurenterisk cyste og associeret malformation	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Abnormality of canalization and retrogressive differentiation (disorder)	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
kongenit sygdom og abnormitet af hjertet, pars thoracica aortae og perikardiet	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Intrapulmonal arteriovenøs fistel	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Congenital abnormalities of thoracic aortic branches	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Congenital functional disorders of the small intestine	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Cobb's syndrome	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Band of Ladd	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Spinal arteriovenous malformation	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Vitellointestinal band	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Simonart's band	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Persistent vertical vein	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Congenital abnormality of liver and/or biliary tract (disorder)	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Congenital renal artery stenosis	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Persistent descending vein	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Thoracogenic kyphoscoliosis	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Congenital anomaly of lower respiratory system	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Deficiency of xanthine oxidase	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Congenital anomaly of perineum	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Congenital anomaly of intestinal tract	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Congenital portal-systemic shunt	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Congenital absence of portal vein	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Congenital anomaly of duodenum	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Congenital anomaly of peritoneum	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Congenital anomaly of large intestine	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Fabry's disease	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Ivemarks syndom	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Primary hyperoxaluria	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Congenital deformity of sacroiliac joint	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Syringomyelobulbi	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Renal carnitine transport defect	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Xiphopagus	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Congenital absence of pectoral muscle	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Gouty tophus of heart	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Congenital deformity of hip joint	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Intestinal lipofuscinosis	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Notomelus (disorder)	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Glycogen storage disease	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Restrictive cardiomyopathy secondary to familial storage disease (disorder)	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Benign recurrent intrahepatic cholestasis	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Rotor syndrome	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Congenital anomaly of the thymus	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Fanconi syndrome	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
11p partial monosomy syndrome	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Congenital anomaly of endocrine gland	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Situs inversus viscerum	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Familial methionine malabsorption	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Multiple renal arteries	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Familial juvenile hyperuricemic nephropathy (disorder)	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
kongenit anomali i pancreas	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Congenital anomaly of bile ducts	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Congenital anomaly of the pelvis	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Peutz-Jeghers syndrome	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Straight back syndrome	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Hepatic porphyria	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Vascular compression of esophagus by aberrant right subclavian artery arising from descending aorta	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Intestinal enteropeptidase deficiency	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Congenital anomaly of spleen	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Cowden syndrome	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Tryptophan malabsorption syndrome	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Congenital anomaly of aorta	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Dilated cardiomyopathy due to familial storage disease (disorder)	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Congenital anomaly of stomach	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Gardner syndrome	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Tetanus omphalitis	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Turcot syndrome	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Exstrophy of urinary bladder sequence	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Familial arthrogryposis-cholestatic hepatorenal syndrome	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Pancreatic colipase deficiency	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Mucopolysaccharidosis, MPS-II	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Congenital kyphosis	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
A heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. Three types of PFIC have been identified and are related to mutations in hepatocellular transport system genes involved in bile formation. Main clinical manifestations include cholestasis, pruritus and jaundice.	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Hereditary coproporphyria	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
A short-rib dysplasia with characteristics of narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes. In rare cases, postaxial polydactyly may also be present. The narrow thorax may cause neonatal respiratory failure, and may be associated with persistent respiratory manifestations. The growth rate is variable but may be almost normal. Intellectual development is normal. The molecular basis of the syndrome has been partially elucidated indicating involvement of the IFT80 (3q25.33), DYNC2H1 (11q22.3), WDR19 (4p14) and TTC21B (2q24.3) genes, each encoding an intraflagellar transport protein. The syndrome is transmitted as an autosomal recessive trait.	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Histidine transport defect	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Pancreatic triacylglycerol lipase deficiency	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Congenital deformity of clavicle	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Lowe syndrome	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Congenital spondylolysis of lumbosacral region	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Neutral 1 amino acid transport defect	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Congenital anomaly of spinal cord	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Kongenit abdominalvæganomali	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some
Dysmorphic sialidosis with renal involvement	Is a	False	Congenital anomaly of trunk	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
130470012	Congenital anomaly of trunk	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
503880014	Congenital musculoskeletal abnormality of trunk	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
819587018	Congenital anomaly of trunk (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2009891000005118	Kongenit truncusanomali	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)