773730002: Osteopetrosis hypogammaglobulinemia syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Procedure related finding\Evaluation finding\Imaging finding (finding)\Bone densimetry abnormal\Bone density above reference range\Dysplasia with increased bone density\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Procedure related finding\Evaluation finding\Measurement finding\Finding of substance level (finding)\Finding of 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 above reference range (finding)\Bone density above reference range\Dysplasia with increased bone density\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\Bone densimetry abnormal\Bone density above reference range\Dysplasia with increased bone density\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\Dysplasia with increased bone density\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Bone density finding (finding)\Bone density above reference range\Dysplasia with increased bone density\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis (disorder)\Osteochondrodysplasia with osteopetrosis (disorder)\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Dysplasia with increased bone density\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Osteopetrosis (disorder)\Osteochondrodysplasia with osteopetrosis (disorder)\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Osteopetrosis (disorder)\Osteochondrodysplasia with osteopetrosis (disorder)\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis (disorder)\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis (disorder)\Osteochondrodysplasia with osteopetrosis (disorder)\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis (disorder)\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis (disorder)\Osteochondrodysplasia with osteopetrosis (disorder)\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Osteopetrosis (disorder)\Osteochondrodysplasia with osteopetrosis (disorder)\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteopetrosis (disorder)\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 foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis (disorder)\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis (disorder)\Osteochondrodysplasia with osteopetrosis (disorder)\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital immunodeficiency disease\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of immune structure\Chronic disease of immune structure (disorder)\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of immune structure\Specific antibody deficiency\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Osteopetrosis (disorder)\Osteochondrodysplasia with osteopetrosis (disorder)\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Osteopetrosis (disorder)\Osteochondrodysplasia with osteopetrosis (disorder)\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Osteopetrosis (disorder)\Osteochondrodysplasia with osteopetrosis (disorder)\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis (disorder)\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis (disorder)\Osteochondrodysplasia with osteopetrosis (disorder)\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis (disorder)\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis (disorder)\Osteochondrodysplasia with osteopetrosis (disorder)\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 (disorder)\Osteochondrodysplasia with osteopetrosis (disorder)\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis (disorder)\Osteochondrodysplasia with osteopetrosis (disorder)\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Osteopetrosis (disorder)\Osteochondrodysplasia with osteopetrosis (disorder)\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis (disorder)\Osteopetrosis hypogammaglobulinemia syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis (disorder)\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
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
3416181001000119	Osteopetrose-Hypogammaglobulinämie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5535521000241117	syndrome d'ostéopétrose et hypogammaglobulinémie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5535521000241117	syndrome d'ostéopétrose et hypogammaglobulinémie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3416181001000119	Osteopetrose-Hypogammaglobulinämie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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