254122007: Osteopetrosis with renal tubular acidosis (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Osteopetrosis with renal tubular acidosis
\Musculoskeletal finding\Bone finding\Disorder of bone\Metabolic bone disease\Osteopetrosis with renal tubular acidosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteopetrosis with renal tubular acidosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Osteopetrosis\Osteopetrosis with renal tubular acidosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Osteopetrosis with renal tubular acidosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Osteopetrosis with renal tubular acidosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteopetrosis with renal tubular acidosis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteopetrosis with renal tubular acidosis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteopetrosis\Osteopetrosis with renal tubular acidosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteopetrosis with renal tubular acidosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteopetrosis with renal tubular acidosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Osteopetrosis\Osteopetrosis with renal tubular acidosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Osteopetrosis with renal tubular acidosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Metabolic bone disease\Osteopetrosis with renal tubular acidosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteopetrosis with renal tubular acidosis
\Disease\Metabolic disease\Chronic metabolic disorder\Osteopetrosis with renal tubular acidosis
\Disease\Metabolic disease\Metabolic bone disease\Osteopetrosis with renal tubular acidosis
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder of phosphate, calcium and vitamin D metabolism\Osteopetrosis with renal tubular acidosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteopetrosis with renal tubular acidosis
\Disease\Chronic disease\Chronic metabolic disorder\Osteopetrosis with renal tubular acidosis
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Osteopetrosis\Osteopetrosis with renal tubular acidosis
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Osteopetrosis with renal tubular acidosis
\Disease\Developmental disorder\Developmental hereditary disorder\Osteopetrosis\Osteopetrosis with renal tubular acidosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteopetrosis with renal tubular acidosis

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

Descriptions:

Id Description Lang Type Status Case? Module

378287015 Carbonic anhydrase II deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

378288013 CA2 - Osteopetrosis with renal tubular acidosis en Synonym Active Entire term case sensitive SNOMED CT core module

378289017 Osteopetrosis with renal tubular acidosis en Synonym Active Entire term case insensitive SNOMED CT core module

644970016 Osteopetrosis with renal tubular acidosis (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteopetrosis with renal tubular acidosis	Is a	Osteopetrosis	true	Inferred relationship	Existential restriction modifier
Osteopetrosis with renal tubular acidosis	Is a	Disorder of phosphate, calcium and vitamin D metabolism	true	Inferred relationship	Existential restriction modifier
Osteopetrosis with renal tubular acidosis	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Osteopetrosis with renal tubular acidosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Osteopetrosis with renal tubular acidosis	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Osteopetrosis with renal tubular acidosis	Is a	Metabolic bone disease	true	Inferred relationship	Existential restriction modifier
Osteopetrosis with renal tubular acidosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Osteopetrosis with renal tubular acidosis	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Osteopetrosis with renal tubular acidosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Osteopetrosis with renal tubular acidosis	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Osteopetrosis with renal tubular acidosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Osteopetrosis with renal tubular acidosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Osteopetrosis with renal tubular acidosis	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Osteopetrosis with renal tubular acidosis	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Osteopetrosis with renal tubular acidosis	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	2
Osteopetrosis with renal tubular acidosis	Is a	Chronic metabolic disorder	true	Inferred relationship	Existential restriction modifier
Osteopetrosis with renal tubular acidosis	Interprets	Osteoclast turnover rate	true	Inferred relationship	Existential restriction modifier	2
Osteopetrosis with renal tubular acidosis	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	3

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
378287015	Carbonic anhydrase II deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
378288013	CA2 - Osteopetrosis with renal tubular acidosis	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
378289017	Osteopetrosis with renal tubular acidosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
644970016	Osteopetrosis with renal tubular acidosis (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module