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 hypogammaglobulinaemia syndrome
\Evaluation finding\Measurement finding\Finding of substance level\Protein level - finding\Globulin level - finding\Abnormal globulin level\Decreased globulin\Hypogammaglobulinaemia\Congenital hypogammaglobulinaemia\Osteopetrosis hypogammaglobulinaemia syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Decreased globulin\Hypogammaglobulinaemia\Congenital hypogammaglobulinaemia\Osteopetrosis hypogammaglobulinaemia syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal globulin level\Decreased globulin\Hypogammaglobulinaemia\Congenital hypogammaglobulinaemia\Osteopetrosis hypogammaglobulinaemia syndrome

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

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

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

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3726016017 Autosomal recessive osteopetrosis type 7 en Synonym Active Case insensitive SNOMED CT core

3726017014 Osteopetrosis hypogammaglobulinemia syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3726018016 Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia en Synonym Active Case insensitive SNOMED CT core

3726019012 Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinaemia en Synonym Active Case insensitive SNOMED CT core

3726020018 Osteopetrosis hypogammaglobulinemia syndrome en Synonym Active Case insensitive SNOMED CT core

3726021019 Osteopetrosis hypogammaglobulinaemia syndrome en Synonym Active Case insensitive SNOMED CT core

3726022014 An extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (for example anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21. en Definition Active Case sensitive SNOMED CT core

3726023016 An extremely rare primary bone dysplasia with increased bone density disorder characterised by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinaemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), haematologic abnormalities with bone marrow failure (for example anaemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3726016017	Autosomal recessive osteopetrosis type 7	en	Synonym	Active	Case insensitive	SNOMED CT core
3726017014	Osteopetrosis hypogammaglobulinemia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3726018016	Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3726019012	Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3726020018	Osteopetrosis hypogammaglobulinemia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3726021019	Osteopetrosis hypogammaglobulinaemia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3726022014	An extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (for example anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.	en	Definition	Active	Case sensitive	SNOMED CT core
3726023016	An extremely rare primary bone dysplasia with increased bone density disorder characterised by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinaemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), haematologic abnormalities with bone marrow failure (for example anaemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.	en	Definition	Active	Case sensitive	SNOMED CT core