773730002: Osteopetrosis hypogammaglobulinemia syndrome (disorder)

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

\Procedure related finding\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
\Procedure related finding\Evaluation finding\Measurement finding\Finding of substance level (finding)\Protein level - finding\Globulin level - finding\Globulin level outside reference range (finding)\Globulin below reference range\Hypogammaglobulinemia\Congenital hypogammaglobulinaemia\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
\Procedure related finding\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Globulin below reference range\Hypogammaglobulinemia\Congenital hypogammaglobulinaemia\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
\Procedure related finding\Evaluation finding\Measurement finding\Measurement finding outside reference range\Globulin level outside reference range (finding)\Globulin below reference range\Hypogammaglobulinemia\Congenital hypogammaglobulinaemia\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
\Procedure related finding\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density (disorder)\Osteopetrosis hypogammaglobulinemia syndrome (disorder)

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

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

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

Descriptions:

Id Description Lang Type Status Case? Module

3726016017 Autosomal recessive osteopetrosis type 7 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

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

3726018016 Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3726019012 Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3726020018 Osteopetrosis hypogammaglobulinemia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3726021019 Osteopetrosis hypogammaglobulinaemia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

4202741000052116 syndrom med osteopetros och hypogammaglobulinemi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3726016017	Autosomal recessive osteopetrosis type 7	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3726017014	Osteopetrosis hypogammaglobulinemia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3726018016	Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3726019012	Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3726020018	Osteopetrosis hypogammaglobulinemia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3726021019	Osteopetrosis hypogammaglobulinaemia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
4202741000052116	syndrom med osteopetros och hypogammaglobulinemi	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)