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719258003: Pyknoachondrogenesis (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\Pyknoachondrogenesis

\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\Pyknoachondrogenesis

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Pyknoachondrogenesis
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Pyknoachondrogenesis
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Pyknoachondrogenesis
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Pyknoachondrogenesis
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Pyknoachondrogenesis
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Pyknoachondrogenesis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Pyknoachondrogenesis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Pyknoachondrogenesis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Pyknoachondrogenesis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Pyknoachondrogenesis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Pyknoachondrogenesis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Pyknoachondrogenesis
\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\Pyknoachondrogenesis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Pyknoachondrogenesis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Pyknoachondrogenesis
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Pyknoachondrogenesis
\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\Pyknoachondrogenesis
\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\Pyknoachondrogenesis
\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\Pyknoachondrogenesis
\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\Pyknoachondrogenesis
\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\Pyknoachondrogenesis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Pyknoachondrogenesis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Pyknoachondrogenesis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Pyknoachondrogenesis
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Pyknoachondrogenesis
\Disease\Developmental disorder\Developmental hereditary disorder\Pyknoachondrogenesis
\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\Pyknoachondrogenesis
\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\Pyknoachondrogenesis
\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\Pyknoachondrogenesis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Pyknoachondrogenesis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Pyknoachondrogenesis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Pyknoachondrogenesis

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3315539016 Pyknoachondrogenesis (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3315729013 Pyknoachondrogenesis en Synonym Active Entire term case insensitive SNOMED CT core module

3315730015 Camera syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pyknoachondrogenesis	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier
Pyknoachondrogenesis	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Pyknoachondrogenesis	Is a	Osteochondrodysplasia	false	Inferred relationship	Existential restriction modifier
Pyknoachondrogenesis	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Pyknoachondrogenesis	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Pyknoachondrogenesis	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	5
Pyknoachondrogenesis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Pyknoachondrogenesis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	6
Pyknoachondrogenesis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	7
Pyknoachondrogenesis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	6
Pyknoachondrogenesis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	6
Pyknoachondrogenesis	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	7
Pyknoachondrogenesis	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	7
Pyknoachondrogenesis	Finding site	Limb structure	false	Inferred relationship	Existential restriction modifier	5
Pyknoachondrogenesis	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Pyknoachondrogenesis	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Pyknoachondrogenesis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Pyknoachondrogenesis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Pyknoachondrogenesis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Pyknoachondrogenesis	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Pyknoachondrogenesis	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Pyknoachondrogenesis	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Pyknoachondrogenesis	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	3
Pyknoachondrogenesis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Pyknoachondrogenesis	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Pyknoachondrogenesis	Finding site	Limb structure	true	Inferred relationship	Existential restriction modifier	2
Pyknoachondrogenesis	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Pyknoachondrogenesis	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Existential restriction modifier
Pyknoachondrogenesis	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier
Pyknoachondrogenesis	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
3315539016	Pyknoachondrogenesis (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3315729013	Pyknoachondrogenesis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3315730015	Camera syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module