254114000: Singleton-Merten syndrome (disorder)

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

\Procedure related finding\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density below reference range\Dysplasia with decreased bone density\Singleton-Merten syndrome
\Procedure related finding\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Bone density below reference range\Dysplasia with decreased bone density\Singleton-Merten syndrome
\Procedure related finding\Evaluation finding\Measurement finding\Measurement finding outside reference range\Bone densimetry abnormal\Bone density below reference range\Dysplasia with decreased bone density\Singleton-Merten syndrome
\Procedure related finding\Bone density finding (finding)\Bone density below reference range\Dysplasia with decreased bone density\Singleton-Merten syndrome

\Musculoskeletal finding\Bone finding\Bone density finding (finding)\Bone density below reference range\Dysplasia with decreased bone density\Singleton-Merten syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Singleton-Merten syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Singleton-Merten syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Singleton-Merten syndrome
\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\Singleton-Merten syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Singleton-Merten syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Singleton-Merten syndrome

\Disease\Genetic disease\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Singleton-Merten syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Singleton-Merten syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Singleton-Merten syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Singleton-Merten syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Singleton-Merten syndrome
\Disease\Disorder of immune function (disorder)\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Singleton-Merten syndrome
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Singleton-Merten syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Singleton-Merten syndrome
\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\Singleton-Merten syndrome
\Disease\Disorder of body system\Disorder of immune structure (disorder)\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Singleton-Merten syndrome
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Singleton-Merten syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Singleton-Merten syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Singleton-Merten syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Singleton-Merten syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Singleton-Merten syndrome
\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\Singleton-Merten syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Singleton-Merten syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Singleton-Merten syndrome
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Singleton-Merten syndrome
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Singleton-Merten syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Singleton-Merten syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Singleton-Merten syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Singleton-Merten 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

378275010 Singleton-Merten syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

644960018 Singleton-Merten syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Singleton-Merten syndrome	Is a	Dysplasia with decreased bone density	true	Inferred relationship	Some
Singleton-Merten syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Singleton-Merten syndrome	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Singleton-Merten syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Singleton-Merten syndrome	Finding site	Bone structure	true	Inferred relationship	Some	1
Singleton-Merten syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Singleton-Merten syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Singleton-Merten syndrome	Finding site	Bone structure	false	Inferred relationship	Some	1
Singleton-Merten syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Singleton-Merten syndrome	Finding site	Bone structure	false	Inferred relationship	Some	2
Singleton-Merten syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Singleton-Merten syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Singleton-Merten syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Singleton-Merten syndrome	Interprets	Bone density scan	true	Inferred relationship	Some	2
Singleton-Merten syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Singleton-Merten syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Singleton-Merten syndrome	Is a	Type I interferonopathy	true	Inferred relationship	Some
Singleton-Merten syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Singleton-Merten syndrome	Is a	Hereditary disorder of immune system	true	Inferred relationship	Some
Singleton-Merten syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Singleton-Merten syndrome	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Some	3
Singleton-Merten syndrome	Associated morphology	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Some	3
Singleton-Merten syndrome	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	3

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
378275010	Singleton-Merten syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
644960018	Singleton-Merten syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core