254116003: geroderma osteodysplastica (aandoening)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Geroderma osteodysplastica (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Geroderma osteodysplastica (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Geroderma osteodysplastica (disorder)

\Procedure related finding\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density below reference range\Dysplasia with decreased bone density\Geroderma osteodysplastica (disorder)
\Procedure related finding\Bone density finding (finding)\Bone density below reference range\Dysplasia with decreased bone density\Geroderma osteodysplastica (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Geroderma osteodysplastica (disorder)
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Geroderma osteodysplastica (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Geroderma osteodysplastica (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Geroderma osteodysplastica (disorder)

\Musculoskeletal finding\Bone finding\Bone density finding (finding)\Bone density below reference range\Dysplasia with decreased bone density\Geroderma osteodysplastica (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Geroderma osteodysplastica (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Metabolic bone disease\Geroderma osteodysplastica (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Geroderma osteodysplastica (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Geroderma osteodysplastica (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Geroderma osteodysplastica (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Geroderma osteodysplastica (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Geroderma osteodysplastica (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Geroderma osteodysplastica (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Premature aging syndrome (disorder)\Geroderma osteodysplastica (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Geroderma osteodysplastica (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Geroderma osteodysplastica (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Geroderma osteodysplastica (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Geroderma osteodysplastica (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Geroderma osteodysplastica (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Dysplasia with decreased bone density\Geroderma osteodysplastica (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Geroderma osteodysplastica (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Geroderma osteodysplastica (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Premature aging syndrome (disorder)\Geroderma osteodysplastica (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Geroderma osteodysplastica (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Geroderma osteodysplastica (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Premature aging syndrome (disorder)\Geroderma osteodysplastica (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Geroderma osteodysplastica (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Geroderma osteodysplastica (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Geroderma osteodysplastica (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Geroderma osteodysplastica (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Geroderma osteodysplastica (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Metabolic bone disease\Geroderma osteodysplastica (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Geroderma osteodysplastica (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Geroderma osteodysplastica (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Premature aging syndrome (disorder)\Geroderma osteodysplastica (disorder)
\Disease\Metabolic disease\Metabolic bone disease\Geroderma osteodysplastica (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Premature aging syndrome (disorder)\Geroderma osteodysplastica (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Geroderma osteodysplastica (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Geroderma osteodysplastica (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Dysplasia with decreased bone density\Geroderma osteodysplastica (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Geroderma osteodysplastica (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Geroderma osteodysplastica (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Geroderma osteodysplastica (disorder)	Is a	Dysplasia with decreased bone density	true	Inferred relationship	Some
Geroderma osteodysplastica (disorder)	Is a	Progeria	false	Inferred relationship	Some
Geroderma osteodysplastica (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Geroderma osteodysplastica (disorder)	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Geroderma osteodysplastica (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Geroderma osteodysplastica (disorder)	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Geroderma osteodysplastica (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	1
Geroderma osteodysplastica (disorder)	Finding site	Skin structure	false	Inferred relationship	Some
Geroderma osteodysplastica (disorder)	Is a	Congenital anomaly of skin	false	Inferred relationship	Some
Geroderma osteodysplastica (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Geroderma osteodysplastica (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Geroderma osteodysplastica (disorder)	Is a	Metabolic bone disease	true	Inferred relationship	Some
Geroderma osteodysplastica (disorder)	Is a	Premature aging syndrome (disorder)	true	Inferred relationship	Some
Geroderma osteodysplastica (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Geroderma osteodysplastica (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	1
Geroderma osteodysplastica (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Geroderma osteodysplastica (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Geroderma osteodysplastica (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	2
Geroderma osteodysplastica (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	2
Geroderma osteodysplastica (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Geroderma osteodysplastica (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	3
Geroderma osteodysplastica (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	1
Geroderma osteodysplastica (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Geroderma osteodysplastica (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Geroderma osteodysplastica (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Geroderma osteodysplastica (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Geroderma osteodysplastica (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Geroderma osteodysplastica (disorder)	Interprets	Bone density scan	true	Inferred relationship	Some	2
Geroderma osteodysplastica (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Geroderma osteodysplastica (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Geroderma osteodysplastica (disorder)	Is a	Disorder involving the integument of fetus OR newborn	true	Inferred relationship	Some

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
378278012	Geroderma osteodysplastica	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
378279016	Osteodysplastic geroderma	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
378280018	GO - Geroderma osteodysplastica	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
644963016	Geroderma osteodysplastica (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6287961000146112	geroderma osteodysplastica	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6287971000146118	geroderma osteodysplastica (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)