367647000: Fibrocystic change (morphologic abnormality)

SNOMED CT Concept\Body structure (body structure)\Morphologically altered structure\Morphologically abnormal structure\...

\Mechanical abnormality\Mechanical lesion\Cyst\Fibrocystic change

\Lesion (morphologic abnormality)\Mechanical lesion\Cyst\Fibrocystic change
\Lesion (morphologic abnormality)\Fibrosis AND/OR repair abnormality\Fibrosis\Fibrocystic change
\Lesion (morphologic abnormality)\Mass\Cyst\Fibrocystic change

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

504876010 Fibrocystic change en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

823414011 Fibrocystic change (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1490803012 Fibrocystic changes en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Fibrocystic change	Is a	Dysplasia	false	Inferred relationship	Some
Fibrocystic change	Is a	Cyst	true	Inferred relationship	Some
Fibrocystic change	Is a	Fibrosis	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Fibrocystic change, proliferative type with atypia	Is a	True	Fibrocystic change	Inferred relationship	Some
Fibrocystic change, proliferative type	Is a	True	Fibrocystic change	Inferred relationship	Some
Nonproliferative fibrocystic change	Is a	True	Fibrocystic change	Inferred relationship	Some
Nonproliferative fibrocystic disease	Is a	True	Fibrocystic change	Inferred relationship	Some
Congenital cystic liver disease NOS	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	1
Medullary cystic disease of the kidney	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	1
Nephronophthisis	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	1
Medullary cystic disease, otherwise specified	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	2
Medullary cystic disease NOS	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	2
Other specified congenital cystic kidney disease	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	2
Other congenital cystic kidney disease NOS	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	2
Congenital cystic kidney disease NOS	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	2
[X]Other cystic kidney diseases	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	2
Medullary sponge kidney	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	2
Adult type polycystic kidney disease type 1	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	2
Adult type polycystic kidney disease type 2 (disorder)	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	2
Autosomal dominant polycystic kidney disease in childhood	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	2
Nephronophthisis - medullary cystic disease	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	2
Medullary sponge kidney with nephrocalcinosis	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	2
Medullary sponge kidney without nephrocalcinosis	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	2
Fibrocystic kidney disease	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	2
Medullary cystic disease, adult type	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	1
[EDTA] Polycystic kidneys, infantile (recessive) associated with renal failure	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	2
[EDTA] Polycystic kidneys, adult type (dominant) associated with renal failure	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	2
[EDTA] Medullary cystic disease, including nephronophthisis, associated with renal failure	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	1
polykystose rénale autosomique dominante	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	2
Polycystic kidney disease, infantile type	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	2
Microcystic renal disease	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	2
Congenital cystic disease of liver	Associated morphology	True	Fibrocystic change	Inferred relationship	Some	1
Simple renal cyst	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	3
Congenital cystic kidney disease	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	1
Solitary multilocular renal cyst	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	2
Medullary cystic kidney disease type 1	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	1
Infantile nephronophthisis (disorder)	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	1
Adolescent nephronophthisis (disorder)	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	1
Juvenile nephronophthisis (disorder)	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	1
Fibrocystic disease of breast	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	1
Medullary cystic kidney disease type 2	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	1
Adolescent nephronophthisis (disorder)	Associated morphology	True	Fibrocystic change	Inferred relationship	Some	1
Medullary cystic kidney disease type 2	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	1
Nephronophthisis	Associated morphology	True	Fibrocystic change	Inferred relationship	Some	1
Juvenile nephronophthisis (disorder)	Associated morphology	True	Fibrocystic change	Inferred relationship	Some	1
Infantile nephronophthisis (disorder)	Associated morphology	True	Fibrocystic change	Inferred relationship	Some	1
Medullary cystic disease of the kidney	Associated morphology	True	Fibrocystic change	Inferred relationship	Some	1
Fibrocystic disease of breast	Associated morphology	True	Fibrocystic change	Inferred relationship	Some	1
Medullary cystic kidney disease type 1	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	1
Medullary cystic disease, adult type	Associated morphology	True	Fibrocystic change	Inferred relationship	Some	1
Nephronophthisis type 6 (disorder)	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	1
Nephronophthisis type 4 (disorder)	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	1
Nephronophthisis type 5 (disorder)	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	1
Nephronophthisis type 5 (disorder)	Associated morphology	True	Fibrocystic change	Inferred relationship	Some	1
Nephronophthisis type 4 (disorder)	Associated morphology	True	Fibrocystic change	Inferred relationship	Some	1
Nephronophthisis type 6 (disorder)	Associated morphology	True	Fibrocystic change	Inferred relationship	Some	1
A rare ciliopathy characterized by the association of nephronophthisis and liver fibrosis. Renal manifestations include chronic renal failure, polyuria, polydipsia, anemia, as well as increased echogenicity on renal ultrasound and interstitial fibrosis and tubular dilation on biopsy. Hepatic involvement manifests as hepatosplenomegaly with extensive fibrosis, destruction of the bile ducts, and cholestasis. Mild psychomotor retardation and ocular symptoms, such as strabismus, nystagmus, retinal degeneration, and anisocoria, have been reported in some patients.	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	4
A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterised by the neurological features of JS associated with both renal and ocular disease.	Associated morphology	False	Fibrocystic change	Inferred relationship	Some	3
A form of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to UMOD mutations that is clinically characterized by bland urinalysis (absence of blood or protein in the urine), chronic kidney disease (CKD) leading to end-stage kidney disease (ESKD) between 20 and 80 years, and gout occurring in 50% of affected individuals.	Associated morphology	True	Fibrocystic change	Inferred relationship	Some	1
A rare autosomal dominant tubulointerstitial kidney (ADTKD) disease due to MUC1 mutations characterized clinically by a bland urinalysis (absence of blood or protein in the urine), and chronic kidney disease leading to end-stage kidney disease (ESKD) between 20 and 80 years.	Associated morphology	True	Fibrocystic change	Inferred relationship	Some	1
A rare, genetic renal tubular disease characterized by tubular damage and interstitial fibrosis in absence of glomerular lesions and clinically manifesting with chronic kidney disease (CKD) and slow progression to end-stage kidney disease (ESKD).	Associated morphology	True	Fibrocystic change	Inferred relationship	Some	1
A rare, genetic, renal disease characterized by the association of familial adult medullary cystic disease with spastic quadriparesis. There have been no further descriptions in the literature since 1990.	Associated morphology	True	Fibrocystic change	Inferred relationship	Some	3
A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterised by the neurological features of JS associated with both renal and ocular disease.	Associated morphology	True	Fibrocystic change	Inferred relationship	Some	1
Nephronophthisis - medullary cystic disease	Associated morphology	True	Fibrocystic change	Inferred relationship	Some	1
A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.	Associated morphology	True	Fibrocystic change	Inferred relationship	Some	5
Fibrocystic kidney disease	Associated morphology	True	Fibrocystic change	Inferred relationship	Some	1
Renal dysplasia and retinal aplasia	Associated morphology	True	Fibrocystic change	Inferred relationship	Some	1
A rare ciliopathy characterized by the association of nephronophthisis and liver fibrosis. Renal manifestations include chronic renal failure, polyuria, polydipsia, anemia, as well as increased echogenicity on renal ultrasound and interstitial fibrosis and tubular dilation on biopsy. Hepatic involvement manifests as hepatosplenomegaly with extensive fibrosis, destruction of the bile ducts, and cholestasis. Mild psychomotor retardation and ocular symptoms, such as strabismus, nystagmus, retinal degeneration, and anisocoria, have been reported in some patients.	Associated morphology	True	Fibrocystic change	Inferred relationship	Some	2
Fibrocystic renal degeneration	Associated morphology	True	Fibrocystic change	Inferred relationship	Some	2
Fibrocystic change of left breast (finding)	Associated morphology	True	Fibrocystic change	Inferred relationship	Some	1
Fibrocystic change of right breast (finding)	Associated morphology	True	Fibrocystic change	Inferred relationship	Some	1

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
504876010	Fibrocystic change	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
823414011	Fibrocystic change (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1490803012	Fibrocystic changes	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core