23150001: proteussyndroom (aandoening)

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

\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\Proteus syndrome
\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Proteus syndrome
\Skin AND/OR mucosa finding (finding)\Skin finding\Mass of skin\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\Proteus syndrome
\Skin AND/OR mucosa finding (finding)\Skin finding\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Proteus syndrome
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\Proteus syndrome
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Proteus syndrome

\Mass of body structure\Mass of soft tissue (finding)\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neurocutaneous syndrome\Proteus syndrome
\Mass of body structure\Mass of soft tissue (finding)\Mass of skin\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\Proteus syndrome
\Mass of body structure\Mass of soft tissue (finding)\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Proteus syndrome
\Mass of body structure\Hamartoma of integument (disorder)\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\Proteus syndrome
\Mass of body structure\Neoplasm of integumentary system (disorder)\Neoplasm of skin\Neurocutaneous syndrome\Proteus syndrome
\Mass of body structure\Mass of body region\Mass of skin\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\Proteus syndrome
\Mass of body structure\Mass of body region\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Proteus syndrome
\Mass of body structure\Space-occupying lesion of nervous system\Neoplasm of nervous system\Neurocutaneous syndrome\Proteus syndrome

\Neurological lesion\Space-occupying lesion of nervous system\Neoplasm of nervous system\Neurocutaneous syndrome\Proteus syndrome

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Hereditary disorder of musculoskeletal system\Proteus syndrome

\Disorder of skeletal system\Skeletal dysplasia\Proteus syndrome

\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Proteus syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Proteus syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Proteus syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Proteus syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Proteus syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Proteus syndrome
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital hamartoma of skin (disorder)\Proteus syndrome
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Neurocutaneous syndrome\Proteus syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Proteus syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\Neurocutaneous syndrome\Proteus syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hamartoma (disorder)\Congenital hamartoma of skin (disorder)\Proteus syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Proteus syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Proteus syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Proteus syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Proteus syndrome
\Disease\Neoplasm and/or hamartoma (disorder)\Hamartoma (disorder)\Hamartoma of integument (disorder)\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\Proteus syndrome
\Disease\Neoplasm and/or hamartoma (disorder)\Hamartoma (disorder)\Congenital hamartoma (disorder)\Congenital hamartoma of skin (disorder)\Proteus syndrome
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease (disorder)\Neoplasm of integumentary system (disorder)\Neoplasm of skin\Neurocutaneous syndrome\Proteus syndrome
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease (disorder)\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neurocutaneous syndrome\Proteus syndrome
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease (disorder)\Neoplasm of nervous system\Neurocutaneous syndrome\Proteus syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Proteus syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Proteus syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Proteus syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\Proteus syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Proteus syndrome
\Disease\Disorder of body system\Disorder of integument\Hamartoma of integument (disorder)\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\Proteus syndrome
\Disease\Disorder of body system\Disorder of integument\Neoplasm of integumentary system (disorder)\Neoplasm of skin\Neurocutaneous syndrome\Proteus syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Proteus syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital hamartoma of skin (disorder)\Proteus syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Neurocutaneous syndrome\Proteus syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\Proteus syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Proteus syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\Proteus syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Proteus syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Proteus syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Neurocutaneous syndrome\Proteus syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Proteus syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neoplasm of nervous system\Neurocutaneous syndrome\Proteus syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Proteus syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Proteus syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Proteus syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\Proteus syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Proteus syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neurocutaneous syndrome\Proteus syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\Proteus syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Proteus syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\Proteus syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Proteus syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Proteus syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Proteus syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Proteus syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Proteus syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Proteus syndrome

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

38878012 Proteus syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

752637018 Proteus syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

1468941000146112 proteussyndroom (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

1468951000146110 proteussyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

4011208018 A very rare and complex hamartomatous overgrowth disorder with characteristics of progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. Neonates usually appear normal at birth. Onset usually occurs from 6-18 months of age with asymmetric overgrowth seen mainly in the hands or feet. Causal mutations have been reported in two components of the phosphatidylinositol 3-kinase (PI3K)-AKT pathway: PTEN and AKT1. The AKT1 mutation is a somatic mosaic. PTEN mutations have been reported both in the constitutive DNA and as somatic mosaic mutations. The disease is not inherited in those with a somatic AKT1 de novo mutation; PTEN mutations are inherited autosomal dominantly. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

10280911000146119 Zeer zeldzame erfelijke aandoening met als kenmerken overmatige groei of misvormingen van verschillende typen weefsels, zoals huid, onderhuids weefsel, botten en organen. nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Proteus syndrome	Is a	Congenital hamartosis	false	Inferred relationship	Some
Proteus syndrome	Is a	Multisystem disorder O-P	false	Inferred relationship	Some
Proteus syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Proteus syndrome	Is a	multisysteemaandoening	false	Inferred relationship	Some
Proteus syndrome	Associated morphology	Hamartoma	false	Inferred relationship	Some
Proteus syndrome	Is a	Congenital hamartoma (disorder)	false	Inferred relationship	Some
Proteus syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Proteus syndrome	Associated morphology	Hamartoma	false	Inferred relationship	Some	1
Proteus syndrome	Associated morphology	Gene mosaicism	false	Inferred relationship	Some	1
Proteus syndrome	Associated morphology	Hypertrophy (morphologic abnormality)	false	Inferred relationship	Some	2
Proteus syndrome	Is a	Genetic mutation	false	Inferred relationship	Some
Proteus syndrome	Is a	Disease	false	Inferred relationship	Some
Proteus syndrome	Interprets	Genetic test (procedure)	false	Inferred relationship	Some	3
Proteus syndrome	Is a	Neurocutaneous syndrome	true	Inferred relationship	Some
Proteus syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Proteus syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Proteus syndrome	Is a	Congenital hamartoma of skin (disorder)	true	Inferred relationship	Some
Proteus syndrome	Is a	Skeletal dysplasia	true	Inferred relationship	Some
Proteus syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Proteus syndrome	Is a	Multiple malformation syndrome with early overgrowth	true	Inferred relationship	Some
Proteus syndrome	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Some
Proteus syndrome	Finding site	Skeletal system structure	true	Inferred relationship	Some	1
Proteus syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Proteus syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Proteus syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Proteus syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Proteus syndrome	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	2
Proteus syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Proteus syndrome	Finding site	Skin structure	true	Inferred relationship	Some	3
Proteus syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Proteus syndrome	Associated morphology	Hamartoma	true	Inferred relationship	Some	3
Proteus syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	3
Proteus syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Proteus syndrome	Is a	Congenital anomaly of nervous system	true	Inferred relationship	Some
Proteus syndrome	Associated morphology	Neoplasm	true	Inferred relationship	Some	4
Proteus syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Proteus syndrome	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	4
Proteus syndrome	Associated morphology	Neoplasm	true	Inferred relationship	Some	5
Proteus syndrome	Finding site	Skin structure	true	Inferred relationship	Some	5
Proteus syndrome	Occurrence	Congenital	true	Inferred relationship	Some	5

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Paving stone nevus	Is a	False	Proteus syndrome	Inferred relationship	Some
Port-wine stain in proteus syndrome (disorder)	Is a	True	Proteus syndrome	Inferred relationship	Some

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
38878012	Proteus syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
752637018	Proteus syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1468941000146112	proteussyndroom (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1468951000146110	proteussyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4011208018	A very rare and complex hamartomatous overgrowth disorder with characteristics of progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. Neonates usually appear normal at birth. Onset usually occurs from 6-18 months of age with asymmetric overgrowth seen mainly in the hands or feet. Causal mutations have been reported in two components of the phosphatidylinositol 3-kinase (PI3K)-AKT pathway: PTEN and AKT1. The AKT1 mutation is a somatic mosaic. PTEN mutations have been reported both in the constitutive DNA and as somatic mosaic mutations. The disease is not inherited in those with a somatic AKT1 de novo mutation; PTEN mutations are inherited autosomal dominantly.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
10280911000146119	Zeer zeldzame erfelijke aandoening met als kenmerken overmatige groei of misvormingen van verschillende typen weefsels, zoals huid, onderhuids weefsel, botten en organen.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)