367489004: Infantile malignant osteopetrosis (disorder)

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

\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Infantile malignant osteopetrosis

\Disease\Genetic disease\Hereditary disease\Autosomal recessive hereditary disorder (disorder)\Infantile malignant osteopetrosis
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Infantile malignant osteopetrosis
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Infantile malignant osteopetrosis
\Disease\Chronic disease\Infantile malignant osteopetrosis
\Disease\Developmental disorder\Congenital malformation\Infantile malignant osteopetrosis

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: IPS terminology module (core metadata concept)

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) IPS terminology module (core metadata concept)

492386011 Marble bone disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

776595019 Infantile malignant osteopetrosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

1228699013 Congenital osteopetrosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

1228700014 Autosomal recessive lethal osteopetrosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

3437513010 Autosomal recessive malignant osteopetrosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

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) IPS terminology module (core metadata concept)

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) IPS terminology module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Infantile malignant osteopetrosis	Is a	Chronic disease	true	Inferred relationship	Some
Infantile malignant osteopetrosis	Is a	Congenital malformation	true	Inferred relationship	Some
Infantile malignant osteopetrosis	Is a	Disorder of bone (disorder)	true	Inferred relationship	Some
Infantile malignant osteopetrosis	Is a	Autosomal recessive hereditary disorder (disorder)	true	Inferred relationship	Some
Infantile malignant osteopetrosis	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Infantile malignant osteopetrosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Infantile malignant osteopetrosis	Finding site	Bone structure	true	Inferred relationship	Some	1
Infantile malignant osteopetrosis	Pathological process (attribute)	Pathological developmental process (qualifier value)	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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

International Patient Summary

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)	IPS terminology module (core metadata concept)
492386011	Marble bone disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	IPS terminology module (core metadata concept)
776595019	Infantile malignant osteopetrosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	IPS terminology module (core metadata concept)
1228699013	Congenital osteopetrosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	IPS terminology module (core metadata concept)
1228700014	Autosomal recessive lethal osteopetrosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	IPS terminology module (core metadata concept)
3437513010	Autosomal recessive malignant osteopetrosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	IPS terminology module (core metadata concept)
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)	IPS terminology module (core metadata concept)
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)	IPS terminology module (core metadata concept)