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

\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

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 (core metadata concept) SNOMED CT core

3487947019 RHYNS syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3487948012 Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

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

3487950016 Syndrome with the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. So far, it has been described in four males. Autosomal recessive transmission is likely but an X-linked mode of inheritance cannot be excluded. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4404641000172110 RHYNS-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4404651000172112 syndroom van retinitis pigmentosa, hypopituïtarisme, nefroftise en skeletdysplasie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4404661000172114 syndroom van retinitis pigmentosa, hypopituïtarisme, nefronoftise en skeletdysplasie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

Characteristic

Refinability

Reference Sets

Description inactivation indicator reference set

GB English

US English

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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 (core metadata concept)	SNOMED CT core
3487947019	RHYNS syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3487948012	Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3487949016	RHYNS (retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3487950016	Syndrome with the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. So far, it has been described in four males. Autosomal recessive transmission is likely but an X-linked mode of inheritance cannot be excluded.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4404641000172110	RHYNS-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4404651000172112	syndroom van retinitis pigmentosa, hypopituïtarisme, nefroftise en skeletdysplasie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4404661000172114	syndroom van retinitis pigmentosa, hypopituïtarisme, nefronoftise en skeletdysplasie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)