367489004: Infantile malignant osteopetrosis (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Infantile malignant osteopetrosis
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Osteopetrosis\Infantile malignant osteopetrosis
\Musculoskeletal finding\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Osteopetrosis\Infantile malignant osteopetrosis
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Infantile malignant osteopetrosis
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Infantile malignant osteopetrosis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Infantile malignant osteopetrosis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteopetrosis\Infantile malignant osteopetrosis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Infantile malignant osteopetrosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Infantile malignant osteopetrosis
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Osteopetrosis\Infantile malignant osteopetrosis
\Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Osteopetrosis\Infantile malignant osteopetrosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Infantile malignant osteopetrosis
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Infantile malignant osteopetrosis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Infantile malignant osteopetrosis
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Osteopetrosis\Infantile malignant osteopetrosis
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Infantile malignant osteopetrosis
\Disease\Developmental disorder\Developmental hereditary disorder\Osteopetrosis\Infantile malignant osteopetrosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Infantile malignant osteopetrosis

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1228699013 Congenital osteopetrosis en Synonym Active Case insensitive SNOMED CT core

1228700014 Autosomal recessive lethal osteopetrosis en Synonym Active Case insensitive SNOMED CT core

3437513010 Autosomal recessive malignant osteopetrosis en Synonym Active Case insensitive SNOMED CT core

492384014 Infantile malignant osteopetrosis en Synonym Active Case insensitive SNOMED CT core

492386011 Marble bone disease en Synonym Active Case insensitive SNOMED CT core

776595019 Infantile malignant osteopetrosis (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3437514016 A rare congenital disorder of bone resorption characterised by generalised skeletal densification. Bone marrow failure, fractures and visual impairment are the classical features of the disease, which begins in early infancy or in fetal life. It results from the failure of osteoclasts to resorb immature bone. This leads to abnormal bone marrow cavity formation and to the clinical signs and symptoms of bone marrow failure. It is accompanied by hepatosplenomegaly due to compensatory extramedullary hematopoiesis. The disease is heterogeneous. Over 50% of cases are due to mutations in the TCIRG1 gene and another 10% are due to mutations in the CLCN7 gene. A small number of patients have been described with mutations in the OSTM1 gene. Transmission is autosomal recessive. en Definition Active Case sensitive SNOMED CT core

3437515015 A rare congenital disorder of bone resorption characterized by generalized skeletal densification. Bone marrow failure, fractures and visual impairment are the classical features of the disease, which begins in early infancy or in fetal life. It results from the failure of osteoclasts to resorb immature bone. This leads to abnormal bone marrow cavity formation and to the clinical signs and symptoms of bone marrow failure. It is accompanied by hepatosplenomegaly due to compensatory extramedullary hematopoiesis. The disease is heterogeneous. Over 50% of cases are due to mutations in the TCIRG1 gene and another 10% are due to mutations in the CLCN7 gene. A small number of patients have been described with mutations in the OSTM1 gene. Transmission is autosomal recessive. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Infantile malignant osteopetrosis	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Infantile malignant osteopetrosis	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Infantile malignant osteopetrosis	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Infantile malignant osteopetrosis	Interprets	Osteoclast turnover rate	true	Inferred relationship	Some	2
Infantile malignant osteopetrosis	Clinical course	Progressive	true	Inferred relationship	Some	3
Infantile malignant osteopetrosis	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Infantile malignant osteopetrosis	Is a	Osteopetrosis	true	Inferred relationship	Some
Infantile malignant osteopetrosis	Finding site	Bone structure	false	Inferred relationship	Some	1
Infantile malignant osteopetrosis	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Infantile malignant osteopetrosis	Occurrence	Congenital	false	Inferred relationship	Some	2
Infantile malignant osteopetrosis	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Infantile malignant osteopetrosis	Finding site	Bone structure	false	Inferred relationship	Some	2
Infantile malignant osteopetrosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Infantile malignant osteopetrosis	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Infantile malignant osteopetrosis	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Infantile malignant osteopetrosis	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Infantile malignant osteopetrosis	Occurrence	Congenital	false	Inferred relationship	Some
Infantile malignant osteopetrosis	Finding site	Bone structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Henck-Assman disease	Is a	False	Infantile malignant osteopetrosis	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1228699013	Congenital osteopetrosis	en	Synonym	Active	Case insensitive	SNOMED CT core
1228700014	Autosomal recessive lethal osteopetrosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3437513010	Autosomal recessive malignant osteopetrosis	en	Synonym	Active	Case insensitive	SNOMED CT core
492384014	Infantile malignant osteopetrosis	en	Synonym	Active	Case insensitive	SNOMED CT core
492386011	Marble bone disease	en	Synonym	Active	Case insensitive	SNOMED CT core
776595019	Infantile malignant osteopetrosis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3437514016	A rare congenital disorder of bone resorption characterised by generalised skeletal densification. Bone marrow failure, fractures and visual impairment are the classical features of the disease, which begins in early infancy or in fetal life. It results from the failure of osteoclasts to resorb immature bone. This leads to abnormal bone marrow cavity formation and to the clinical signs and symptoms of bone marrow failure. It is accompanied by hepatosplenomegaly due to compensatory extramedullary hematopoiesis. The disease is heterogeneous. Over 50% of cases are due to mutations in the TCIRG1 gene and another 10% are due to mutations in the CLCN7 gene. A small number of patients have been described with mutations in the OSTM1 gene. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core
3437515015	A rare congenital disorder of bone resorption characterized by generalized skeletal densification. Bone marrow failure, fractures and visual impairment are the classical features of the disease, which begins in early infancy or in fetal life. It results from the failure of osteoclasts to resorb immature bone. This leads to abnormal bone marrow cavity formation and to the clinical signs and symptoms of bone marrow failure. It is accompanied by hepatosplenomegaly due to compensatory extramedullary hematopoiesis. The disease is heterogeneous. Over 50% of cases are due to mutations in the TCIRG1 gene and another 10% are due to mutations in the CLCN7 gene. A small number of patients have been described with mutations in the OSTM1 gene. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core