773730002: Osteopetrosis hypogammaglobulinemia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density above reference range\Dysplasia with increased bone density\Osteopetrosis hypogammaglobulinemia syndrome
\Evaluation finding\Measurement finding\Finding of substance level\Finding of protein level\Finding of globulin level\Globulin level outside reference range\Globulin below reference range\Hypogammaglobulinemia\Congenital hypogammaglobulinemia\Osteopetrosis hypogammaglobulinemia syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Globulin below reference range\Hypogammaglobulinemia\Congenital hypogammaglobulinemia\Osteopetrosis hypogammaglobulinemia syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Globulin level outside reference range\Globulin below reference range\Hypogammaglobulinemia\Congenital hypogammaglobulinemia\Osteopetrosis hypogammaglobulinemia syndrome

\General finding of observation of patient\Procedure related finding\Bone density finding\Bone density above reference range\Dysplasia with increased bone density\Osteopetrosis hypogammaglobulinemia syndrome

\Musculoskeletal finding\Bone finding\Bone density finding\Bone density above reference range\Dysplasia with increased bone density\Osteopetrosis hypogammaglobulinemia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Osteopetrosis hypogammaglobulinemia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Dysplasia with increased bone density\Osteopetrosis hypogammaglobulinemia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Osteopetrosis hypogammaglobulinemia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Osteopetrosis hypogammaglobulinemia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Osteopetrosis hypogammaglobulinemia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Osteochondrodysplasia with osteopetrosis\Osteopetrosis hypogammaglobulinemia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Osteopetrosis hypogammaglobulinemia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Dysplasia with increased bone density\Osteopetrosis hypogammaglobulinemia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Osteopetrosis hypogammaglobulinemia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteochondrodysplasia with osteopetrosis\Osteopetrosis hypogammaglobulinemia syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Osteopetrosis hypogammaglobulinemia syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Osteopetrosis hypogammaglobulinemia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Osteopetrosis hypogammaglobulinemia syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Osteopetrosis hypogammaglobulinemia syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Osteopetrosis hypogammaglobulinemia syndrome
\Disease\Disorder of immune function\Chronic disease of immune function\Osteopetrosis hypogammaglobulinemia syndrome
\Disease\Disorder of immune function\Hereditary disorder of immune system\Osteopetrosis hypogammaglobulinemia syndrome
\Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Specific antibody deficiency\Osteopetrosis hypogammaglobulinemia syndrome
\Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Osteopetrosis hypogammaglobulinemia syndrome
\Disease\Disorder of body system\Disorder of immune structure\Chronic disease of immune structure\Osteopetrosis hypogammaglobulinemia syndrome
\Disease\Disorder of body system\Disorder of immune structure\Specific antibody deficiency\Osteopetrosis hypogammaglobulinemia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Osteopetrosis hypogammaglobulinemia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Osteopetrosis hypogammaglobulinemia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Osteopetrosis hypogammaglobulinemia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Osteopetrosis hypogammaglobulinemia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Osteopetrosis hypogammaglobulinemia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Osteochondrodysplasia with osteopetrosis\Osteopetrosis hypogammaglobulinemia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Osteopetrosis hypogammaglobulinemia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Dysplasia with increased bone density\Osteopetrosis hypogammaglobulinemia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Osteopetrosis hypogammaglobulinemia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteochondrodysplasia with osteopetrosis\Osteopetrosis hypogammaglobulinemia syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Osteopetrosis hypogammaglobulinemia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Osteopetrosis hypogammaglobulinemia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteochondrodysplasia with osteopetrosis\Osteopetrosis hypogammaglobulinemia syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Osteopetrosis hypogammaglobulinemia syndrome
\Disease\Congenital disease\Congenital immunodeficiency disease\Osteopetrosis hypogammaglobulinemia syndrome
\Disease\Chronic disease\Chronic disease of immune structure\Osteopetrosis hypogammaglobulinemia syndrome
\Disease\Chronic disease\Chronic disease of immune function\Osteopetrosis hypogammaglobulinemia syndrome
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Osteopetrosis hypogammaglobulinemia syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Osteopetrosis hypogammaglobulinemia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Osteopetrosis hypogammaglobulinemia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Osteopetrosis hypogammaglobulinemia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteochondrodysplasia with osteopetrosis\Osteopetrosis hypogammaglobulinemia syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Osteopetrosis hypogammaglobulinemia syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3726016017 Autosomal recessive osteopetrosis type 7 en Synonym Active Entire term case insensitive SNOMED CT core module

3726017014 Osteopetrosis hypogammaglobulinemia syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3726018016 Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia en Synonym Active Entire term case insensitive SNOMED CT core module

3726019012 Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinaemia en Synonym Active Entire term case insensitive SNOMED CT core module

3726020018 Osteopetrosis hypogammaglobulinemia syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3726021019 Osteopetrosis hypogammaglobulinaemia syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteopetrosis hypogammaglobulinemia syndrome	Is a	Osteopetrosis	false	Inferred relationship	Existential restriction modifier
Osteopetrosis hypogammaglobulinemia syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	2
Osteopetrosis hypogammaglobulinemia syndrome	Is a	Congenital immunodeficiency disease	true	Inferred relationship	Existential restriction modifier
Osteopetrosis hypogammaglobulinemia syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Osteopetrosis hypogammaglobulinemia syndrome	Is a	Hereditary disorder of immune system	true	Inferred relationship	Existential restriction modifier
Osteopetrosis hypogammaglobulinemia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Osteopetrosis hypogammaglobulinemia syndrome	Interprets	Globulin measurement	true	Inferred relationship	Existential restriction modifier	6
Osteopetrosis hypogammaglobulinemia syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Osteopetrosis hypogammaglobulinemia syndrome	Finding site	Structure of immune system	false	Inferred relationship	Existential restriction modifier	1
Osteopetrosis hypogammaglobulinemia syndrome	Is a	Hypogammaglobulinemia	false	Inferred relationship	Existential restriction modifier
Osteopetrosis hypogammaglobulinemia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Osteopetrosis hypogammaglobulinemia syndrome	Is a	Dysplasia with increased bone density	true	Inferred relationship	Existential restriction modifier
Osteopetrosis hypogammaglobulinemia syndrome	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Existential restriction modifier
Osteopetrosis hypogammaglobulinemia syndrome	Is a	Specific antibody deficiency	true	Inferred relationship	Existential restriction modifier
Osteopetrosis hypogammaglobulinemia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Osteopetrosis hypogammaglobulinemia syndrome	Pathological process	Abnormal immune process	false	Inferred relationship	Existential restriction modifier
Osteopetrosis hypogammaglobulinemia syndrome	Is a	Osteochondrodysplasia with osteopetrosis	true	Inferred relationship	Existential restriction modifier
Osteopetrosis hypogammaglobulinemia syndrome	Is a	Chronic disease of immune structure	true	Inferred relationship	Existential restriction modifier
Osteopetrosis hypogammaglobulinemia syndrome	Is a	Chronic disease of immune function	true	Inferred relationship	Existential restriction modifier
Osteopetrosis hypogammaglobulinemia syndrome	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	5
Osteopetrosis hypogammaglobulinemia syndrome	Interprets	Osteoclast turnover rate	true	Inferred relationship	Existential restriction modifier	4
Osteopetrosis hypogammaglobulinemia syndrome	Finding site	Skeletal system structure	true	Inferred relationship	Existential restriction modifier	1
Osteopetrosis hypogammaglobulinemia syndrome	Interprets	Bone density scan	true	Inferred relationship	Existential restriction modifier	7
Osteopetrosis hypogammaglobulinemia syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	4
Osteopetrosis hypogammaglobulinemia syndrome	Has interpretation	Above reference range	true	Inferred relationship	Existential restriction modifier	7
Osteopetrosis hypogammaglobulinemia syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Osteopetrosis hypogammaglobulinemia syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Osteopetrosis hypogammaglobulinemia syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Osteopetrosis hypogammaglobulinemia syndrome	Finding site	Structure of immune system	true	Inferred relationship	Existential restriction modifier	3
Osteopetrosis hypogammaglobulinemia syndrome	Pathological process	Abnormal immune process	true	Inferred relationship	Existential restriction modifier	3
Osteopetrosis hypogammaglobulinemia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Osteopetrosis hypogammaglobulinemia syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	6
Osteopetrosis hypogammaglobulinemia syndrome	Is a	Congenital hypogammaglobulinemia	true	Inferred relationship	Existential restriction modifier

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
3726016017	Autosomal recessive osteopetrosis type 7	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3726017014	Osteopetrosis hypogammaglobulinemia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3726018016	Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3726019012	Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinaemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3726020018	Osteopetrosis hypogammaglobulinemia syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3726021019	Osteopetrosis hypogammaglobulinaemia syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module