723999009: Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder)

\Kidney disease\Hereditary nephropathy\Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome
\Kidney disease\Kidney lesion\Cyst of kidney\Medullary cystic disease\Nephronophthisis - medullary cystic disease\Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome
\Kidney disease\Kidney lesion\Renal fibrosis\Medullary cystic disease\Nephronophthisis - medullary cystic disease\Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome
\Kidney disease\Disorder of renal parenchyma\Medullary cystic disease\Nephronophthisis - medullary cystic disease\Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome

Descriptions:

Id Description Lang Type Status Case? Module

3487946011 Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3487947019 RHYNS syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3487948012 Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3487949016 RHYNS (retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia) syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Is a	Retinitis pigmentosa	false	Inferred relationship	Existential restriction modifier
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Is a	Hypopituitarism	true	Inferred relationship	Existential restriction modifier
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Existential restriction modifier
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Is a	Nephronophthisis - medullary cystic disease	true	Inferred relationship	Existential restriction modifier
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Existential restriction modifier
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Is a	Hereditary nephropathy	true	Inferred relationship	Existential restriction modifier
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	4
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	4
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Associated morphology	Dystrophy	false	Inferred relationship	Existential restriction modifier	5
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Finding site	Retinal structure	false	Inferred relationship	Existential restriction modifier	5
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier	4
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Finding site	Retinal structure	true	Inferred relationship	Existential restriction modifier	4
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	6
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	7
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Finding site	Pituitary structure	false	Inferred relationship	Existential restriction modifier	6
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Finding site	Kidney structure	false	Inferred relationship	Existential restriction modifier	7
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Is a	Congenital anomaly of retina	true	Inferred relationship	Existential restriction modifier
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Finding site	Kidney structure	true	Inferred relationship	Existential restriction modifier	3
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Finding site	Pituitary structure	true	Inferred relationship	Existential restriction modifier	2
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Finding site	Structure of medulla of kidney	true	Inferred relationship	Existential restriction modifier	5
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Associated morphology	Fibrocystic change	true	Inferred relationship	Existential restriction modifier	5
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	Is a	Autosomal recessive retinitis pigmentosa	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Characteristic

Refinability

This concept is not in any reference sets

Id	Description	Lang	Type	Status	Case?	Module
3487946011	Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3487947019	RHYNS syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3487948012	Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3487949016	RHYNS (retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia) syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module