715487005: Autosomal recessive distal osteolysis syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Autosomal recessive distal osteolysis syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Autosomal recessive distal osteolysis syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Autosomal recessive distal osteolysis syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Autosomal recessive distal osteolysis syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Autosomal recessive distal osteolysis syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Degenerative disorder of bone\Osteolysis\Autosomal recessive distal osteolysis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Autosomal recessive distal osteolysis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteolysis\Autosomal recessive distal osteolysis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Autosomal recessive distal osteolysis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Degenerative disorder of bone\Osteolysis\Autosomal recessive distal osteolysis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Autosomal recessive distal osteolysis syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal recessive distal osteolysis syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal recessive distal osteolysis syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive distal osteolysis syndrome
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteolysis\Autosomal recessive distal osteolysis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Autosomal recessive distal osteolysis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Autosomal recessive distal osteolysis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteolysis\Autosomal recessive distal osteolysis syndrome
\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\Autosomal recessive distal osteolysis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Degenerative disorder of bone\Osteolysis\Autosomal recessive distal osteolysis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Autosomal recessive distal osteolysis syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Autosomal recessive distal osteolysis syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Autosomal recessive distal osteolysis syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Autosomal recessive distal osteolysis syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Autosomal recessive distal osteolysis syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Autosomal recessive distal osteolysis syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Autosomal recessive distal osteolysis syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Autosomal recessive distal osteolysis syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Autosomal recessive distal osteolysis syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Autosomal recessive distal osteolysis syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Autosomal recessive distal osteolysis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Autosomal recessive distal osteolysis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Autosomal recessive distal osteolysis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Autosomal recessive distal osteolysis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Autosomal recessive distal osteolysis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Autosomal recessive distal osteolysis syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2016. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3302793018 Autosomal recessive distal osteolysis syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3302794012 Autosomal recessive distal osteolysis syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3302795013 Distal osteolysis, short stature and intellectual disability en Synonym Active Entire term case insensitive SNOMED CT core module
3302796014 Petit Fryns syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive distal osteolysis syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier
Autosomal recessive distal osteolysis syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Autosomal recessive distal osteolysis syndrome	Is a	Osteolysis	true	Inferred relationship	Existential restriction modifier
Autosomal recessive distal osteolysis syndrome	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Autosomal recessive distal osteolysis syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Autosomal recessive distal osteolysis syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Autosomal recessive distal osteolysis syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	5
Autosomal recessive distal osteolysis syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Autosomal recessive distal osteolysis syndrome	Finding site	Limb structure	false	Inferred relationship	Existential restriction modifier	5
Autosomal recessive distal osteolysis syndrome	Finding site	Limb structure	true	Inferred relationship	Existential restriction modifier	3
Autosomal recessive distal osteolysis syndrome	Associated morphology	Osteolysis	false	Inferred relationship	Existential restriction modifier	3
Autosomal recessive distal osteolysis syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	3
Autosomal recessive distal osteolysis syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	4
Autosomal recessive distal osteolysis syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Autosomal recessive distal osteolysis syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	4
Autosomal recessive distal osteolysis syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
Autosomal recessive distal osteolysis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Autosomal recessive distal osteolysis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Autosomal recessive distal osteolysis syndrome	Associated morphology	Osteolysis	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive distal osteolysis syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive distal osteolysis syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive distal osteolysis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive distal osteolysis syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Autosomal recessive distal osteolysis syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Autosomal recessive distal osteolysis syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Autosomal recessive distal osteolysis syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier
Autosomal recessive distal osteolysis syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

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
3302793018	Autosomal recessive distal osteolysis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3302794012	Autosomal recessive distal osteolysis syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3302795013	Distal osteolysis, short stature and intellectual disability	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3302796014	Petit Fryns syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module