703528008: syndroom van cutis gyrata, acanthosis nigricans en craniosynostose (aandoening)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Cutis gyrata syndrome of Beare and Stevenson

\Head finding (finding)\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Cutis gyrata syndrome of Beare and Stevenson
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Cutis gyrata syndrome of Beare and Stevenson

\Functional finding\Abnormal keratinization\Disorder of keratinisation\...

\Acanthosis nigricans (disorder)\Cutis gyrata syndrome of Beare and Stevenson

\Inherited disorder of keratinisation\Cutis gyrata syndrome of Beare and Stevenson

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Cutis gyrata syndrome of Beare and Stevenson
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Acanthosis nigricans (disorder)\Cutis gyrata syndrome of Beare and Stevenson
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Cutis gyrata syndrome of Beare and Stevenson
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Cutis gyrata syndrome of Beare and Stevenson
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Cutis gyrata syndrome of Beare and Stevenson
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Cutis gyrata syndrome of Beare and Stevenson
\Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Acanthosis nigricans (disorder)\Cutis gyrata syndrome of Beare and Stevenson
\Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinisation\Cutis gyrata syndrome of Beare and Stevenson

\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Cutis gyrata syndrome of Beare and Stevenson
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson

\Disease\Disorder of joint region\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson
\Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cutis gyrata syndrome of Beare and Stevenson
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Cutis gyrata syndrome of Beare and Stevenson
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cutis gyrata syndrome of Beare and Stevenson
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Cutis gyrata syndrome of Beare and Stevenson
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Cutis gyrata syndrome of Beare and Stevenson
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Cutis gyrata syndrome of Beare and Stevenson
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Cutis gyrata syndrome of Beare and Stevenson
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Cutis gyrata syndrome of Beare and Stevenson
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Cutis gyrata syndrome of Beare and Stevenson
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Acanthosis nigricans (disorder)\Cutis gyrata syndrome of Beare and Stevenson
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Cutis gyrata syndrome of Beare and Stevenson
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Cutis gyrata syndrome of Beare and Stevenson
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Cutis gyrata syndrome of Beare and Stevenson
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Cutis gyrata syndrome of Beare and Stevenson
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Cutis gyrata syndrome of Beare and Stevenson
\Disease\Developmental disorder\Developmental hereditary disorder\Cutis gyrata syndrome of Beare and Stevenson
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Cutis gyrata syndrome of Beare and Stevenson

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cutis gyrata syndrome of Beare and Stevenson	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Cutis gyrata syndrome of Beare and Stevenson	Is a	Congenital anomaly of skin	true	Inferred relationship	Some
Cutis gyrata syndrome of Beare and Stevenson	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Cutis gyrata syndrome of Beare and Stevenson	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Cutis gyrata syndrome of Beare and Stevenson	Is a	Craniosynostosis syndrome	true	Inferred relationship	Some
Cutis gyrata syndrome of Beare and Stevenson	Occurrence	Congenital	true	Inferred relationship	Some	2
Cutis gyrata syndrome of Beare and Stevenson	Occurrence	Congenital	false	Inferred relationship	Some	3
Cutis gyrata syndrome of Beare and Stevenson	Associated morphology	congenitale premature fusie	false	Inferred relationship	Some	2
Cutis gyrata syndrome of Beare and Stevenson	Finding site	Joint structure of suture of skull	true	Inferred relationship	Some	2
Cutis gyrata syndrome of Beare and Stevenson	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	3
Cutis gyrata syndrome of Beare and Stevenson	Finding site	Skin structure	false	Inferred relationship	Some	3
Cutis gyrata syndrome of Beare and Stevenson	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Cutis gyrata syndrome of Beare and Stevenson	Finding site	Bone structure of cranium	false	Inferred relationship	Some
Cutis gyrata syndrome of Beare and Stevenson	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Cutis gyrata syndrome of Beare and Stevenson	Finding site	Skin structure	true	Inferred relationship	Some	1
Cutis gyrata syndrome of Beare and Stevenson	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Cutis gyrata syndrome of Beare and Stevenson	Occurrence	Congenital	true	Inferred relationship	Some	1
Cutis gyrata syndrome of Beare and Stevenson	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Cutis gyrata syndrome of Beare and Stevenson	Is a	Inherited disorder of keratinisation	true	Inferred relationship	Some
Cutis gyrata syndrome of Beare and Stevenson	Is a	Acanthosis nigricans (disorder)	true	Inferred relationship	Some
Cutis gyrata syndrome of Beare and Stevenson	Has interpretation	Abnormal	true	Inferred relationship	Some	3
Cutis gyrata syndrome of Beare and Stevenson	Interprets	Keratinization	true	Inferred relationship	Some	3
Cutis gyrata syndrome of Beare and Stevenson	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Cutis gyrata syndrome of Beare and Stevenson	Associated morphology	Premature fusion	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3009081015	Cutis gyrata syndrome of Beare and Stevenson	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3009171017	Beare-Stevenson cutis gyrata syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3009385019	Cutis gyrata syndrome of Beare and Stevenson (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4029018019	Cutis gyrata, acanthosis nigricans, craniosynostosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6356841000146117	Beare-Stevenson-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6356871000146110	syndroom van Beare-Stevenson	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6690981000146118	syndroom van cutis gyrata van Beare en Stevenson	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7123481000146113	syndroom van cutis gyrata, acanthosis nigricans en craniosynostose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7123491000146110	syndroom van cutis gyrata, acanthosis nigricans en craniosynostose (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)