367489004: Infantile malignant osteopetrosis (disorder)

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

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopetrosis\Infantile malignant osteopetrosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Infantile malignant osteopetrosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Osteopetrosis\Infantile malignant osteopetrosis
\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\Infantile malignant osteopetrosis
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Infantile malignant osteopetrosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Osteopetrosis\Infantile malignant osteopetrosis
\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\Infantile malignant osteopetrosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Infantile malignant osteopetrosis
\Disease\Congenital disease (disorder)\Congenital malformation\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 (disorder)\Congenital anomaly of skeletal bone\Osteopetrosis\Infantile malignant osteopetrosis
\Disease\Developmental disorder\Developmental hereditary disorder\Osteopetrosis\Infantile malignant osteopetrosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Infantile malignant osteopetrosis

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

492384014 Infantile malignant osteopetrosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

492386011 Marble bone disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

776595019 Infantile malignant osteopetrosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1228699013 Congenital osteopetrosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1228700014 Autosomal recessive lethal osteopetrosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3437513010 Autosomal recessive malignant osteopetrosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

1997441000052118 infantil malign osteopetros 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
Infantile malignant osteopetrosis	Is a	Osteopetrosis	true	Inferred relationship	Some
Infantile malignant osteopetrosis	Occurrence	Congenital	false	Inferred relationship	Some
Infantile malignant osteopetrosis	Finding site	Bone structure	true	Inferred relationship	Some	1
Infantile malignant osteopetrosis	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Infantile malignant osteopetrosis	Finding site	Bone structure	false	Inferred relationship	Some	1
Infantile malignant osteopetrosis	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Infantile malignant osteopetrosis	Occurrence	Congenital	false	Inferred relationship	Some	2
Infantile malignant osteopetrosis	Associated morphology	utvecklingsabnormitet	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	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Infantile malignant osteopetrosis	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Infantile malignant osteopetrosis	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Infantile malignant osteopetrosis	Pathological process (attribute)	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 (qualifier value)	true	Inferred relationship	Some	3

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

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
492384014	Infantile malignant osteopetrosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
492386011	Marble bone disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
776595019	Infantile malignant osteopetrosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1228699013	Congenital osteopetrosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1228700014	Autosomal recessive lethal osteopetrosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3437513010	Autosomal recessive malignant osteopetrosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
1997441000052118	infantil malign osteopetros	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)