254122007: Osteopetrosis with renal tubular acidosis (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\Osteopetrosis with renal tubular acidosis
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\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)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopetrosis\Osteopetrosis with renal tubular acidosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\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 foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\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)\Disorder of bone development (disorder)\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 (disorder)\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\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 (disorder)\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 (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

378287015 Carbonic anhydrase II deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

378288013 CA2 - Osteopetrosis with renal tubular acidosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

378289017 Osteopetrosis with renal tubular acidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteopetrosis with renal tubular acidosis	Is a	Osteopetrosis	true	Inferred relationship	Some
Osteopetrosis with renal tubular acidosis	Is a	Disorder of phosphate, calcium and vitamin D metabolism	true	Inferred relationship	Some
Osteopetrosis with renal tubular acidosis	Finding site	Bone structure	true	Inferred relationship	Some	1
Osteopetrosis with renal tubular acidosis	Occurrence	Congenital	false	Inferred relationship	Some
Osteopetrosis with renal tubular acidosis	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Osteopetrosis with renal tubular acidosis	Is a	Metabolic bone disease	true	Inferred relationship	Some
Osteopetrosis with renal tubular acidosis	Finding site	Bone structure	false	Inferred relationship	Some	1
Osteopetrosis with renal tubular acidosis	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Osteopetrosis with renal tubular acidosis	Occurrence	Congenital	false	Inferred relationship	Some	2
Osteopetrosis with renal tubular acidosis	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Osteopetrosis with renal tubular acidosis	Finding site	Bone structure	false	Inferred relationship	Some	2
Osteopetrosis with renal tubular acidosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Osteopetrosis with renal tubular acidosis	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Osteopetrosis with renal tubular acidosis	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Osteopetrosis with renal tubular acidosis	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Osteopetrosis with renal tubular acidosis	Is a	Chronic metabolic disorder	true	Inferred relationship	Some
Osteopetrosis with renal tubular acidosis	Interprets	Osteoclast turnover rate	true	Inferred relationship	Some	2
Osteopetrosis with renal tubular acidosis	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	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 (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
378288013	CA2 - Osteopetrosis with renal tubular acidosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
378289017	Osteopetrosis with renal tubular acidosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
644970016	Osteopetrosis with renal tubular acidosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core